Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Affiliations

• ¹ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
• ² Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
• ³ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
• ⁴ Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center - Università degli Studi di Milano, Milan 20122, Italy.
• ⁵ Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
• ⁶ Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Data Tecnica International, Glen Echo, MD, USA.
• ⁷ Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
• ⁸ Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
• ⁹ Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
• ¹⁰ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Institute of Genomic Medicine, Catholic University, Roma, Italy.
• ¹¹ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, UK.
• ¹² Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., Boston, MA 02115, USA.
• ¹³ ALS Center, Salvatore Maugeri Foundation, IRCCS, Mistretta, Messina, Italy.
• ¹⁴ "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
• ¹⁵ "Maggiore della Carità" University Hospital, Novara, Italy.
• ¹⁶ Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
• ¹⁷ Department of Neuroscience, St. Agostino Estense Hospital, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.
• ¹⁸ Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation, Maternal and Child Health, Ospedale Policlinico San Martino, Genoa, Italy.
• ¹⁹ Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
• ²⁰ ALS Clinical Research Center, University of Palermo, Palermo, Italy.
• ²¹ Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
• ²² Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
• ²³ Department of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center for Neuromuscular Diseases, Aurora Foundation, Messina, Italy.
• ²⁴ Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
• ²⁵ Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Campania "Luigi Vanvitelli," Naples, Italy.
• ²⁶ "Il Bene" Center for Immunological and Rare Neurological Diseases at Bellaria Hospital, IRCCS, Istituto delle Scienze Neurologiche, Bologna, Italy.
• ²⁷ Neurological Clinic, Marche Polytechnic University, Ancona, Italy.
• ²⁸ Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
• ²⁹ Department of Neurology, University of Chieti, Chieti, Italy.
• ³⁰ Longitudinal Studies Section, Clinical Research Branch, National Institute on Aging, NIH, Baltimore, MD 21224, USA.
• ³¹ Department of Neurology, Columbia University, New York, NY 10032, USA.
• ³² Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
• ³³ Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
• ³⁴ Bioverativ, 225 2nd Avenue, Waltham, MA 02145, USA.
• ³⁵ HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
• ³⁶ Center for Genomics of Neurodegenerative Diseases (CGND), New York Genome Center, New York, NY, USA.
• ³⁷ Computational Biology, New York Genome Center, New York, NY, USA.
• ³⁸ Gladstone Institute of Neurological Disease, San Francisco, CA, USA.
• ³⁹ Gladstone Institute of Neurological Disease, San Francisco, CA, USA; Departments of Neurology and Physiology, University of California San Francisco, San Francisco, CA, USA.
• ⁴⁰ Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA.
• ⁴¹ Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA; Broad Institute, 415 Main Street, Cambridge, MA 02142, USA.
• ⁴² Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
• ⁴³ Department of Neurobiology and Behavior, Institute of Memory Impairment and Neurological Disorders, University of California, Irvine, Irvine, CA 92697, USA; Department of Psychiatry and Human Behavior, Institute of Memory Impairment and Neurological Disorders, University of California, Irvine, Irvine, CA 92697, USA.
• ⁴⁴ The Heart Institute and Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
• ⁴⁵ Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA; Neurological Clinical Research Institute (NCRI), Massachusetts General Hospital, Boston, MA, USA.
• ⁴⁶ Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
• ⁴⁷ Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
• ⁴⁸ Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.
• ⁴⁹ Department of Neurology, University of Miami, Miami, FL 33136, USA.
• ⁵⁰ Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
• ⁵¹ Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
• ⁵² 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico "Carlo Besta," and Department of Biomedical and Clinical Sciences "Luigi Sacco," University of Milan, Milan, Italy.
• ⁵³ Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.
• ⁵⁴ Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
• ⁵⁵ Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
• ⁵⁶ Department of Neurosciences, University of Padova, Padova, Italy.
• ⁵⁷ Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
• ⁵⁸ ALS Center, CHU Bretonneau, Tours University, Tours, France.
• ⁵⁹ Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland.
• ⁶⁰ Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
• ⁶¹ Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK.
• ⁶² Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK.
• ⁶³ Department of Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PG, UK.
• ⁶⁴ Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK.
• ⁶⁵ Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, NorthEast London and Essex Regional Motor Neuron Disease Care Centre, London E1 2AT, UK.
• ⁶⁶ Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
• ⁶⁷ Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
• ⁶⁸ Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA.
• ⁶⁹ Division of Brain Sciences, Department of Medicine, Imperial College London, London W120NN, UK.
• ⁷⁰ Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
• ⁷¹ Department of Neurogenetics and Neurology, Academic Medical Centre, Amsterdam, the Netherlands.
• ⁷² ALS-Neuromuscular Unit, Hospital General Universitario Gregorio Marañón, IISGM, Madrid, Spain.
• ⁷³ Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
• ⁷⁴ Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.
• ⁷⁵ Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
• ⁷⁶ Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
• ⁷⁷ Center for Geriatric Medicine, Department of Geriatrics, Neurosciences and Orthopedics, Catholic University of Sacred Heart, Rome 00168, Italy.
• ⁷⁸ Division of Neurology, Barrow Neurological Institute, Phoenix, AZ, USA.
• ⁷⁹ Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.
• ⁸⁰ Department of Neuroscience, University of California, San Diego, La Jolla, CA, USA.
• ⁸¹ Mount Sinai Beth Israel Hospital, Mount Sinai School of Medicine, New York, NY, USA.
• ⁸² Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
• ⁸³ Department of Neurology, Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
• ⁸⁴ Discipline of Pathology, Brain and Mind Centre, The University of Sydney, 94 Mallett Street, Camperdown, NSW 2050, Australia.
• ⁸⁵ Department of Biochemistry, Penn State College of Medicine, Hershey, PA, USA.
• ⁸⁶ Department of Pathology, Penn State College of Medicine, Hershey, PA, USA.
• ⁸⁷ Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
• ⁸⁸ Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA, USA; Department of Neurology, Program in Behavioral Neuroscience, Boston University School of Medicine, Boston, MA, USA.
• ⁸⁹ Neurology Service, VA Boston Healthcare System and Boston University Alzheimer's Disease Center, Boston, MA 02130, USA.
• ⁹⁰ Departments of Pathology and Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
• ⁹¹ Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, Institut du Cerveau et la Moelle (ICM), Assistance Publique Hôpitaux de Paris (AP-HP) - Hôpital Pitié-Salpêtrière, Paris, France.
• ⁹² INM, University Montpellier, Montpellier, France; Department of Biochemistry, CHU Nîmes, Nîmes, France.
• ⁹³ Department of Neurology, Drexel University College of Medicine, Philadelphia, PA, USA; Department of Neurology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.
• ⁹⁴ Epidemiology Branch, National Institute of Environmental Health Sciences, Durham, NC 27709, USA.
• ⁹⁵ KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium.
• ⁹⁶ Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
• ⁹⁷ Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
• ⁹⁸ Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
• ⁹⁹ Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal; Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal.
• ¹⁰⁰ SURFsara, Amsterdam, the Netherlands.
• ¹⁰¹ Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland.
• ¹⁰² Neuromuscular Diseases Center/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland.
• ¹⁰³ Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
• ¹⁰⁴ Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
• ¹⁰⁵ Faculty of Medicine, University of Southampton, Southampton, UK.
• ¹⁰⁶ Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey.
• ¹⁰⁷ ALS Unit/Neurology, Hospital San Rafael, Madrid, Spain.
• ¹⁰⁸ Department of Neurology, Tel-Aviv Sourasky Medical Centre, Tel-Aviv, Israel.
• ¹⁰⁹ Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
• ¹¹⁰ Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland.
• ¹¹¹ Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia.
• ¹¹² Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia; ANZAC Research Institute, Concord Hospital, University of Sydney, Sydney, NSW 2139, Australia.
• ¹¹³ Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
• ¹¹⁴ Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain.
• ¹¹⁵ Tanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON M5S 3H2, Canada.
• ¹¹⁶ Division of Neurology, Department of Internal Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON M4N 3M5, Canada.
• ¹¹⁷ Department of Neurology, Penn State Hershey Medical Center, Hershey, PA, USA.
• ¹¹⁸ Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
• ¹¹⁹ Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan 20133, Italy.
• ¹²⁰ KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium.
• ¹²¹ Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, UK.
• ¹²² Centro Clinico NeMO, Institute of Neurology, Catholic University, Largo F. Vito 1, 00168 Rome, Italy.
• ¹²³ NEuroMuscular Omnicenter (NEMO), Serena Onlus Foundation, Milan, Italy.
• ¹²⁴ Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany.
• ¹²⁵ Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå SE-90185, Sweden.
• ¹²⁶ ALS Center, CHU Gui de Chauliac, University of Montpellier, Montpellier, France.
• ¹²⁷ Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
• ¹²⁸ Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., West Point, PA 19486, USA.
• ¹²⁹ "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Neuroscience Institute of Torino, Turin 10124, Italy.
• ¹³⁰ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA. Electronic address: [email protected].
• ¹³¹ Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: [email protected].