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

David Pellerin¹, Matt C Danzi¹, Carlo Wilke¹+49

• ¹From 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.