Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

Sara Saez-Atienzar¹, Clifton L Dalgard¹, Jinhui Ding¹+8

• ¹From the Neuromuscular Diseases Research Section (S.S-A, B.J.T.), Laboratory of Neurogenetics, NIA, NIH; Department of Anatomy (C.L.D.), Physiology & Genetics, Uniformed Services University of the Health Sciences; The American Genome Center (C.L.D., C.A., D.N.H., M.D.W.), Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences; Computational Biology Core (J.D.), Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD; Rita Levi Montalcini Department of Neuroscience (A.C.), University of Turin, Italy and AOU Città della Salute e della Scienza, Turin, Italy; Division of Neurology and Neurobiology (R. Bowser), Barrow Neurological Institute, Phoenix, AZ; Department of Neurology (E.P.P.), Neuromuscular Center, Neurological Institute, Cleveland Clinic, OH; Department of Neurology (R. Bedlack), Duke University and the Durham VA Medical Center, NC; and Department of Neurology (B.J.T.), Johns Hopkins University, Baltimore, MD.+1