Journal article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

  • Nicolas A Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • Kenna KP Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Renton AE 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.
  • Ticozzi N 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.
  • Faghri F 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.
  • Chia R Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • Dominov JA Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Kenna BJ Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Nalls MA 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.
  • Keagle P Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Rivera AM Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • van Rheenen W Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Murphy NA Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • van Vugt JJFA Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Geiger JT Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Van der Spek RA Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Pliner HA Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • Shankaracharya Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Smith BN Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Marangi G 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.
  • Topp SD Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Abramzon Y 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.
  • Gkazi AS Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Eicher JD Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., Boston, MA 02115, USA.
  • Kenna A Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Mora G "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
  • Calvo A "Maggiore della Carità" University Hospital, Novara, Italy.
  • Mazzini L Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Riva N Department of Neuroscience, St. Agostino Estense Hospital, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.
  • Mandrioli J Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation, Maternal and Child Health, Ospedale Policlinico San Martino, Genoa, Italy.
  • Caponnetto C Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Battistini S ALS Center, Salvatore Maugeri Foundation, IRCCS, Mistretta, Messina, Italy.
  • Volanti P ALS Clinical Research Center, University of Palermo, Palermo, Italy.
  • La Bella V Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
  • Conforti FL Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
  • Borghero G Department of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center for Neuromuscular Diseases, Aurora Foundation, Messina, Italy.
  • Messina S Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
  • Simone IL Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Campania "Luigi Vanvitelli," Naples, Italy.
  • Trojsi F "Il Bene" Center for Immunological and Rare Neurological Diseases at Bellaria Hospital, IRCCS, Istituto delle Scienze Neurologiche, Bologna, Italy.
  • Salvi F Neurological Clinic, Marche Polytechnic University, Ancona, Italy.
  • Logullo FO Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • D'Alfonso S Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Corrado L Department of Neurology, University of Chieti, Chieti, Italy.
  • Capasso M Longitudinal Studies Section, Clinical Research Branch, National Institute on Aging, NIH, Baltimore, MD 21224, USA.
  • Ferrucci L Department of Neurology, Columbia University, New York, NY 10032, USA.
  • Moreno CAM Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Kamalakaran S Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Goldstein DB Bioverativ, 225 2nd Avenue, Waltham, MA 02145, USA.
  • Gitler AD Center for Genomics of Neurodegenerative Diseases (CGND), New York Genome Center, New York, NY, USA.
  • Harris T Computational Biology, New York Genome Center, New York, NY, USA.
  • Myers RM Computational Biology, New York Genome Center, New York, NY, USA.
  • Phatnani H Computational Biology, New York Genome Center, New York, NY, USA.
  • Musunuri RL Gladstone Institute of Neurological Disease, San Francisco, CA, USA.
  • Evani US Gladstone Institute of Neurological Disease, San Francisco, CA, USA; Departments of Neurology and Physiology, University of California, San Francisco, San Francisco, CA, USA.
  • Abhyankar A Gladstone Institute of Neurological Disease, San Francisco, CA, USA.
  • Zody MC Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA.
  • Kaye J Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA; Broad Institute, 415 Main Street, Cambridge, MA 02142, USA.
  • Finkbeiner S 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.
  • Wyman SK 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.
  • LeNail A The Heart Institute and Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Lima L Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA; Neurological Clinical Research Institute (NCRI), Massachusetts General Hospital, Boston, MA, USA.
  • Fraenkel E Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
  • Svendsen CN Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Thompson LM Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA; Neurological Clinical Research Institute (NCRI), Massachusetts General Hospital, Boston, MA, USA.
  • Van Eyk JE Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.
  • Berry JD Department of Neurology, University of Miami, Miami, FL 33136, USA.
  • Miller TM 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.
  • Kolb SJ Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Cudkowicz M Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Baxi E Department of Neurology, University of Miami, Miami, FL 33136, USA.
  • Benatar M Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Taylor JP 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.
  • Rampersaud E Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Wu G Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Wuu J Department of Neurosciences, University of Padova, Padova, Italy.
  • Lauria G ALS Center, CHU Bretonneau, Tours University, Tours, France.
  • Verde F Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland.
  • Fogh I Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Tiloca C Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland.
  • Comi GP Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland.
  • Sorarù G Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK.
  • Cereda C Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK.
  • Corcia P Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK.
  • Laaksovirta H Department of Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PG, UK.
  • Myllykangas L Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK.
  • Jansson L 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.
  • Valori M Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK.
  • Ealing J Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • Hamdalla H Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • Rollinson S Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • Pickering-Brown S Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Orrell RW Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Sidle KC Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Malaspina A Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Hardy J Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Singleton AB Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Johnson JO Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Arepalli S Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Sapp PC Division of Brain Sciences, Department of Medicine, Imperial College London, London W120NN, UK.
  • McKenna-Yasek D Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Polak M Department of Neurogenetics and Neurology, Academic Medical Centre, Amsterdam, the Netherlands.
  • Asress S ALS-Neuromuscular Unit, Hospital General Universitario Gregorio Marañón, IISGM, Madrid, Spain.
  • Al-Sarraj S Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • King A Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • Troakes C Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
  • Vance C 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.
  • de Belleroche J Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Baas F Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
  • Ten Asbroek ALMA Center for Geriatric Medicine, Department of Geriatrics, Neurosciences and Orthopedics, Catholic University of Sacred Heart, Rome 00168, Italy.
  • Muñoz-Blanco JL Division of Neurology, Barrow Neurological Institute, Phoenix, AZ, USA.
  • Hernandez DG Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Ding J Department of Neuroscience, University of California, San Diego, La Jolla, CA, USA.
  • Gibbs JR Mount Sinai Beth Israel Hospital, Mount Sinai School of Medicine, New York, NY, USA.
  • Scholz SW Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Floeter MK Department of Neurology, Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
  • Campbell RH Discipline of Pathology, Brain and Mind Centre, The University of Sydney, 94 Mallett Street, Camperdown, NSW 2050, Australia.
  • Landi F Department of Biochemistry, Penn State College of Medicine, Hershey, PA, USA.
  • Bowser R Department of Pathology, Penn State College of Medicine, Hershey, PA, USA.
  • Pulst SM Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Ravits JM 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.
  • MacGowan DJL Neurology Service, VA Boston Healthcare System and Boston University Alzheimer's Disease Center, Boston, MA 02130, USA.
  • Kirby J Departments of Pathology and Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Pioro EP 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.
  • Pamphlett R INM, University Montpellier, Montpellier, France; Department of Biochemistry, CHU Nîmes, Nîmes, France.
  • Broach J INM, University Montpellier, Montpellier, France; Department of Biochemistry, CHU Nîmes, Nîmes, France.
  • Gerhard G Department of Neurology, Drexel University College of Medicine, Philadelphia, PA, USA; Department of Neurology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.
  • Dunckley TL Epidemiology Branch, National Institute of Environmental Health Sciences, Durham, NC 27709, USA.
  • Brady CB 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.
  • Kowall NW Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Troncoso JC Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Le Ber I 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.
  • Mouzat K Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Lumbroso S Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Heiman-Patterson TD 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.
  • Kamel F SURFsara, Amsterdam, the Netherlands.
  • Van Den Bosch L Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Baloh RH 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.
  • Strom TM Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland.
  • Meitinger T Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Shatunov A Neuromuscular Diseases Center/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland.
  • Van Eijk KR Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
  • de Carvalho M Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Kooyman M Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Middelkoop B Faculty of Medicine, University of Southampton, Southampton, UK.
  • Moisse M Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey.
  • McLaughlin RL ALS Unit/Neurology, Hospital San Rafael, Madrid, Spain.
  • Van Es MA Department of Neurology, Tel-Aviv Sourasky Medical Centre, Tel-Aviv, Israel.
  • Weber M Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Boylan KB Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Van Blitterswijk M Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Rademakers R Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland.
  • Morrison KE Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia.
  • Basak AN Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia.
  • Mora JS 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.
  • Drory VE Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia.
  • Shaw PJ Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Turner MR 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.
  • Talbot K 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.
  • Hardiman O Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • Williams KL Tanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON M5S 3H2, Canada.
  • Fifita JA Division of Neurology, Department of Internal Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON M4N 3M5, Canada.
  • Nicholson GA Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.
  • Blair IP Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.
  • Rouleau GA Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.
  • Esteban-Pérez J Department of Neurology, Penn State Hershey Medical Center, Hershey, PA, USA.
  • García-Redondo A Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Al-Chalabi A 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.
  • Rogaeva E Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
  • Zinman L Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Ostrow LW Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan 20133, Italy.
  • Maragakis NJ 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.
  • Rothstein JD Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan 20133, Italy.
  • Simmons Z 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.
  • Cooper-Knock J 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.
  • Brice A Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, UK.
  • Goutman SA Centro Clinico NeMO, Institute of Neurology, Catholic University, Largo F. Vito 1, 00168 Rome, Italy.
  • Feldman EL NEuroMuscular Omnicenter (NEMO), Serena Onlus Foundation, Milan, Italy.
  • Gibson SB Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany.
  • Taroni F Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå SE-90185, Sweden.
  • Ratti A Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany.
  • Gellera C ALS Center, CHU Gui de Chauliac, University of Montpellier, Montpellier, France.
  • Van Damme P Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Robberecht W Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Fratta P Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  • Sabatelli M Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Lunetta C Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Ludolph AC Department of Neurology, Columbia University, New York, NY 10032, USA.
  • Andersen PM Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Weishaupt JH Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., West Point, PA 19486, USA.
  • Camu W Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland.
  • Trojanowski JQ 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.
  • Van Deerlin VM "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Neuroscience Institute of Torino, Turin 10124, Italy.
  • Brown RH Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK.
  • van den Berg LH 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: bryan.traynor@nih.gov.
  • Veldink JH Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: john.landers@umassmed.edu.
  • Harms MB
  • Glass JD
  • Stone DJ
  • Tienari P
  • Silani V
  • Chiò A
  • Shaw CE
  • Traynor BJ
  • Landers JE
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  • 2018-03-24
Published in:
  • Neuron. - 2018
English To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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  • English
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https://folia.unifr.ch/global/documents/24764
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