Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.

Autor: Krohn L; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Heilbron K; 23andMe, Inc., Sunnyvale, CA, USA., Blauwendraat C; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Reynolds RH; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK., Yu E; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Senkevich K; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Rudakou U; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Estiar MA; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Gustavsson EK; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Brolin K; Lund University, Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund, Sweden., Ruskey JA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Freeman K; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Asayesh F; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada., Chia R; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Arnulf I; Sleep Disorders Unit, Pitié Salpêtrière Hospital, APHP-Sorbonne, Paris Brain Insitute and Sorbonne University, Paris, France., Hu MTM; Oxford Parkinson's Disease Centre (OPDC), University of Oxford, Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Montplaisir JY; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.; Department of Psychiatry, Université de Montréal, Montréal, QC, Canada., Gagnon JF; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.; Department of Psychology, Université du Québec à Montréal, Montreal, QC, Canada., Desautels A; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, QC, Canada.; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada., Dauvilliers Y; National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Institute Neuroscience Montpellier Inserm, Montpellier, France., Gigli GL; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy., Valente M; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy.; Department of Medicine (DAME), University of Udine, Udine, Italy., Janes F; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy., Bernardini A; Clinical Neurology Unit, Department of Neurosciences, University Hospital of Udine, Udine, Italy., Högl B; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Stefani A; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Ibrahim A; Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Šonka K; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Kemlink D; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Oertel W; Department of Neurology, Philipps-University, Marburg, Germany., Janzen A; Department of Neurology, Philipps-University, Marburg, Germany., Plazzi G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio-Emilia, Modena, Italy.; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy., Biscarini F; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy., Antelmi E; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Figorilli M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy., Puligheddu M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy., Mollenhauer B; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Centre Goettingen, Goettingen, Germany., Trenkwalder C; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Centre Goettingen, Goettingen, Germany., Sixel-Döring F; Department of Neurology, Philipps-University, Marburg, Germany.; Paracelsus-Elena-Klinik, Kassel, Germany., Cochen De Cock V; Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.; EuroMov Digital Health in Motion, University of Montpellier IMT Mines Ales, Montpellier, France., Monaca CC; University Lille North of France, Department of Clinical Neurophysiology and Sleep Center, CHU Lille, Lille, France., Heidbreder A; Institute of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany., Ferini-Strambi L; Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy., Dijkstra F; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, Antwerp University Hospital, Edegem, Belgium., Viaene M; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium., Abril B; Sleep disorder Unit, Carémeau Hospital, University Hospital of Nîmes, Nîmes, France., Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Scholz SW; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA., Ryten M; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Bandres-Ciga S; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Noyce A; Preventive Neurology Unit, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.; Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology, London, UK., Cannon P; 23andMe, Inc., Sunnyvale, CA, USA., Pihlstrøm L; Department of Neurology, Oslo University Hospital, Oslo, Norway., Nalls MA; Data Tecnica International, Glen Echo, MD, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Singleton AB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA., Rouleau GA; Department of Human Genetics, McGill University, Montréal, QC, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Postuma RB; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Gan-Or Z; Department of Human Genetics, McGill University, Montréal, QC, Canada. ziv.gan-or@mcgill.ca.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada. ziv.gan-or@mcgill.ca.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. ziv.gan-or@mcgill.ca.

Publikováno v: Nature communications [Nat Commun] 2022 Dec 05; Vol. 13 (1), pp. 7496. Date of Electronic Publication: 2022 Dec 05.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

Autor: Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA., Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford School of Medicine, Stanford, CA, USA., Muriello M; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA., Syverson E; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA., Bonner D; Department of Pediatrics, Division of Medical Genetics, Stanford School of Medicine, Stanford, CA, USA., Estiar MA; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada., Gan-Or Z; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada., Rouleau GA; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada., Lyulcheva E; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Greenhalgh L; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Tessarech M; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Lachmeijer AMA; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Ruaud L; INSERM UMR1141, Neurodiderot, University of Paris, 75019 Paris, France; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France., Levy J; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France., Tabet AC; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Kępczyński Ł; Department of Genetics, Polish Mother's Memorial Hospital - Research Institute, Łódź, Poland., Połatyńska K; Department of Developmental Neurology an Epileptology, Polish Mother's Memorial Hospital - Research Institute, Łódź, Poland., Li Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hobson GM; Department of Research, Nemours Children's Health, Wilmington, DE, USA., Hunter JV; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA; Departments of Ophthalmology and Visual Sciences and Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: esemina@mcw.edu., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: jlupski@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Dec 01; Vol. 109 (12), pp. 2270-2282. Date of Electronic Publication: 2022 Nov 10.

Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.

Autor: Estiar MA; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada., Lail N; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Varghaei P; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada.; Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Quebec, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Neurology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Rouleau GA; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada., Gan-Or Z; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.

Publikováno v: Annals of neurology [Ann Neurol] 2022 May; Vol. 91 (5), pp. 730-732. Date of Electronic Publication: 2021 Dec 14.

Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder.

Autor: Sosero YL; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Yu E; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Estiar MA; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Krohn L; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Mufti K; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Rudakou U; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada., Ruskey JA; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Asayesh F; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Laurent SB; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Spiegelman D; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, Québec, Canada., Quinnell TG; Royal Papworth Hospital NHS Trust, Cambridge, UK., Oscroft N; Royal Papworth Hospital NHS Trust, Cambridge, UK., Arnulf I; Sleep Disorders Unit, Sorbonne University, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, Paris, France., Montplaisir JY; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada.; Department of Psychiatry, Université de Montréal, Montréal, QC, Canada., Gagnon JF; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada.; Department of Psychology, Université du Québec à Montréal, Montréal, QC, Canada., Desautels A; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada.; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada., Dauvilliers Y; National Reference Centre for Orphan Diseases, Narcolepsy- Rare hypersomnias, Sleep Unit, Department of Neurology, CHU Montpellier, Institute for Neurosciences of Montpellier INM, Univ Montpellier, INSERM, Montpellier, France., Gigli GL; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy.; Department of Medicine (DAME), University of Udine, Udine, Italy., Valente M; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy.; Department of Medicine (DAME), University of Udine, Udine, Italy., Janes F; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy., Bernardini A; Department of Neurosciences, Clinical Neurology Unit, University Hospital of Udine, Udine, Italy., Sonka K; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Kemlink D; Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Oertel W; Department of Neurology, Philipps University, Marburg, Germany., Janzen A; Department of Neurology, Philipps University, Marburg, Germany., Plazzi G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy., Antelmi E; IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Neurosciences, Neurology Unit, Movement Disorders Division, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Biscarini F; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy., Figorilli M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy., Puligheddu M; Department of Medical Sciences and Public Health, Sleep Disorder Research Center, University of Cagliari, Cagliari, Italy., Mollenhauer B; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany., Trenkwalder C; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Centre Göttingen, Göttingen, Germany., Sixel-Döring F; Department of Neurology, Philipps University, Marburg, Germany.; Paracelsus-Elena-Klinik, Kassel, Germany., Cochen De Cock V; Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.; EuroMov, University of Montpellier, Montpellier, France., Monaca CC; Department of Clinical Neurophysiology and Sleep Center, University Lille North of France, CHU Lille, Lille, France., Heidbreder A; Department of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany., Ferini-Strambi L; Department of Neurological Sciences, Università Vita-Salute San Raffaele, Milan, Italy., Dijkstra F; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, University Hospital Antwerp, Edegem, Antwerp, Belgium., Viaene M; Laboratory for Sleep Disorders, St. Dimpna Regional Hospital, Geel, Belgium.; Department of Neurology, St. Dimpna Regional Hospital, Geel, Belgium., Abril B; Sleep disorder Unit, Carémeau Hospital, University Hospital of Nîmes, France., Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Postuma RB; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada., Rouleau GA; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Ibrahim A; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Stefani A; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Högl B; Department of Neurology, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria., Hu MTM; Department of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Gan-Or Z; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Montreal Neurological Institute, McGill University, Montréal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.

Publikováno v: Journal of Parkinson's disease [J Parkinsons Dis] 2022; Vol. 12 (1), pp. 333-340.

Hereditary spastic paraplegia initially diagnosed as cerebral palsy.

Autor: Suchowersky O; University of Alberta, Departments of Medicine (Neurology) and Medical Genetics, Edmonton, Canada., Ashtiani S; Alberta Children's Hospital, Medical Genetics, Calgary, Canada., Au PB; Alberta Children's Hospital, Medical Genetics, Calgary, Canada., McLeod S; Alberta Children's Hospital, Developmental Pediatrics, Calgary, Canada., Estiar MA; McGill University, Department of Human Genetics, Montreal, Canada., Gan-Or Z; McGill University, Department of Human Genetics, Montreal, Canada.; McGill University, Department of Neurology and Neurosurgery, Montreal, Canada., Rouleau GA; McGill University, Department of Human Genetics, Montreal, Canada.; McGill University, Department of Neurology and Neurosurgery, Montreal, Canada.

Publikováno v: Clinical parkinsonism & related disorders [Clin Park Relat Disord] 2021 Nov 03; Vol. 5, pp. 100114. Date of Electronic Publication: 2021 Nov 03 (Print Publication: 2021).