Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Autor: Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk., Beecroft SJ; Pawsey Supercomputing Research Centre, Kensington, WA, Australia., Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Cabrera-Serrano M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Sevilla, 41013, Spain., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Chintalaphani SR; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Gamaarachchi H; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Folland C; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Monahan G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia., Dofash L; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Johari M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., Tankard R; Department of Mathematics and Statistics, Curtin University, Perth, WA, Australia., Read J; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Merve A; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Vegezzi E; IRCCS Mondino Foundation, Pavia, Italy., Schnekenberg RP; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Fernandez-Eulate G; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Masingue M; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Giovannini D; CHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France., Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Storey E; Neurology Department, The Alfred Hospital, Melbourne, VIC, Australia., Gardner M; The Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand., Amor DJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Nicholson G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Vucic S; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Henderson RD; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, QLD, Australia.; UQ Centre for Clinical Research, Herston, QLD, Australia., Robertson T; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD, Australia., Dyke J; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia., Fabian V; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia., Mastaglia F; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia., Davis MR; Neurogenetics Unit, Diagnostic Genomics, PathWest, Nedlands, WA, Australia., Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Quinlivan R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, United Kingdom., Hammans S; Wessex Neurological Centre, University Hospital Southampton, Southampton, United Kingdom., Tucci A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., McLean CA; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia., Laing NG; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Lamont PJ; Neurogenetics Unit, Royal Perth Hospital, Perth, WA, Australia., Fahey MC; Department of Paediatrics Monash Children's Hospital, Victoria, Australia., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 17; Vol. 15 (1), pp. 8955. Date of Electronic Publication: 2024 Oct 17.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Autor: Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk., Beecroft SJ; Pawsey Supercomputing Research Centre, Kensington, WA, Australia., Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Cabrera-Serrano M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Sevilla, 41013, Spain., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Chintalaphani SR; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Gamaarachchi H; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Folland C; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Monahan G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia., Dofash L; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Johari M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., Tankard R; Department of Mathematics and Statistics, Curtin University, Perth, WA, Australia., Read J; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Merve A; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Vegezzi E; IRCCS Mondino Foundation, Pavia, Italy., Schnekenberg RP; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Fernandez-Eulate G; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Masingue M; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Giovannini D; CHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France., Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Storey E; Neurology Department, The Alfred Hospital, Melbourne, VIC, Australia., Gardner M; The Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand., Amor DJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Nicholson G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Vucic S; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Henderson RD; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, QLD, Australia.; UQ Centre for Clinical Research, Herston, QLD, Australia., Robertson T; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD, Australia., Dyke J; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia., Fabian V; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia., Mastaglia F; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia., Davis MR; Neurogenetics Unit, Diagnostic Genomics, PathWest, Nedlands, WA, Australia., Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Quinlivan R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, United Kingdom., Hammans S; Wessex Neurological Centre, University Hospital Southampton, Southampton, United Kingdom., Tucci A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., McLean CA; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia., Laing NG; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Lamont PJ; Neurogenetics Unit, Royal Perth Hospital, Perth, WA, Australia., Fahey MC; Department of Paediatrics Monash Children's Hospital, Victoria, Australia., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.

Publikováno v: Nature communications [Nat Commun] 2024 Jul 27; Vol. 15 (1), pp. 6327. Date of Electronic Publication: 2024 Jul 27.

Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.

Autor: Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: joshua.clayton@perkins.org.au., Vo C; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Crane J; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia., Saker S; Genethon, DNA and Cell Bank, 91000 Evry, France., Larmonier T; Genethon, DNA and Cell Bank, 91000 Evry, France., Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France., Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.

Publikováno v: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103411. Date of Electronic Publication: 2024 Mar 31.

Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.

Autor: Driver K; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Vo C; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia., Saker S; Genethon, DNA and Cell Bank, 91000 Evry, France., Larmonier T; Genethon, DNA and Cell Bank, 91000 Evry, France., Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France., Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: joshua.clayton@perkins.org.au.

Publikováno v: Stem cell research [Stem Cell Res] 2023 Dec; Vol. 73, pp. 103258. Date of Electronic Publication: 2023 Nov 22.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

Autor: Pellerin D; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Danzi MC; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Wilke C; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Renaud M; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Fazal S; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Dicaire MJ; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Scriba CK; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Ashton C; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Yanick C; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Beijer D; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Rebelo A; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Rocca C; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Jaunmuktane Z; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Sonnen JA; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Larivière R; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Genís D; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Molina Porcel L; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Choquet K; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Sakalla R; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Provost S; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Robertson R; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Allard-Chamard X; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Tétreault M; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Reiling SJ; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Nagy S; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Nishadham V; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Purushottam M; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Vengalil S; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Bardhan M; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Nalini A; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Chen Z; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Mathieu J; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Massie R; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Chalk CH; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Lafontaine AL; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Evoy F; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Rioux MF; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Ragoussis J; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Boycott KM; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Dubé MP; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Duquette A; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Houlden H; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Ravenscroft G; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Laing NG; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Lamont PJ; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Saporta MA; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Schüle R; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Schöls L; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., La Piana R; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Synofzik M; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Zuchner S; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India., Brais B; From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India.

Publikováno v: The New England journal of medicine [N Engl J Med] 2023 Jan 12; Vol. 388 (2), pp. 128-141. Date of Electronic Publication: 2022 Dec 14.