Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Autor: Pellerin D; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK., Méreaux JL; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Boluda S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada., Davoine CS; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Genis D; Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta (ICS) & Hospital Santa Caterina IAS, Institut d'Investigació Biomèdica de Girona (IDIBGI), 17007 Girona, Spain., Spurdens G; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Ashton C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Department of Neurology, Royal Perth Hospital, Perth, WA 6000, Australia., Hammond JM; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia., Gerhart BJ; Department of Neurology, Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390-8823, USA., Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK.; Neurobiology and Medical Genetics Laboratory, 'Nicolae Testemitanu' State University of Medicine and Pharmacy, MD-2004, Chisinau, Republic of Moldova., Le PU; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada., Safisamghabadi M; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada., Yanick C; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Lee H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK., Nageshwaran SK; Department of Psychiatry, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Department of Neuroscience, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA., Matos-Rodrigues G; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD 20892, USA., Jaunmuktane Z; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London WC1N 3BG, UK.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Petrecca K; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada., Akbarian S; Department of Psychiatry, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Department of Neuroscience, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA., Nussenzweig A; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD 20892, USA., Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Renaud M; INSERM-U1256 NGERE, Université de Lorraine, 54500 Nancy, France.; Service de Neurologie, CHRU de Nancy, 54000 Nancy, France.; Service de Génétique Clinique, CHRU de Nancy, 54000 Nancy, France., Bonnet C; INSERM-U1256 NGERE, Université de Lorraine, 54500 Nancy, France.; Laboratoire de Génétique, CHRU de Nancy, 54000 Nancy, France., Ravenscroft G; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia 6009, Australia., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Napierala JS; Department of Neurology, Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390-8823, USA., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia., Napierala M; Department of Neurology, Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390-8823, USA., Brice A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Molina Porcel L; Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomediques August Pi i Sunyer (FRCB-IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Neurological Tissue Brain Bank, Biobanc-Hospital Clínic-FRCB-IDIBAPS, 08036 Barcelona, Spain., Seilhean D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Durr A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Oct 08. Date of Electronic Publication: 2024 Oct 08.