Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

David Genis¹, Sara Ortega-Cubero¹, Hector San Nicolás¹+18

• ¹From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (IDI), and Radiology Department (B.B.), University Hospital "Dr. Josep Trueta," Hospital de Santa Caterina, Parc Hospitalari Martí i Julià; Group of Investigation in Neurodegeneration and Neuroinflammation (D.G., B.A., F.M., L.R.-T., J.G.), Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona; Medical Sciences Department (B.A., L.R.-T.), University of Girona; Neurogenetics Laboratory, Division of Neurosciences (S.O.-C., E. Lorenzo, P.P.), Center for Applied Medical Research, University of Navarra, Pamplona; Department of Neurology and Neurosurgery (S.O.-C., H.S.N.), Hospital Universitario de Burgos (HUBU); CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (S.O.-C., E. Lorenzo, P.P.), Instituto de Salud Carlos III, Madrid; Molecular Diagnostic Centre for Hereditary Diseases (CDGM) (J.C., J.G., L.d.J., E. López, B.C., V.V.), Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona; Centro Nacional de Análisis Genómico (CNAG-CRG) (R.T., S.B.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF) (R.T., S.B.), Barcelona; National Bioinformatics Institute (R.T.), Madrid; Clinical Psychology (L.F.), Hospital de Dia de Malalties Neurodegeneratives, Hospital de Santa Caterina, Parc Hospitalari Martí i Julià, Girona; and Movement Disorders Unit, Department of Neurology (P.P.), University Hospital Mutua de Terrassa, Barcelona, Spain.+1