title: Fused in Sarcoma Neuropathology in Neurodegenerative Disease.
abstract: Abnormal intracellular accumulation of the fused in sarcoma (FUS) protein is the characteristic pathological feature of cases of familial amyotrophic lateral sclerosis (ALS) caused byFUSmutations (ALS-FUS) and several uncommon disorders that may present with sporadic frontotemporal dementia (FTLD-FUS). Although these findings provide further support for the concept that ALS and FTD are closely related clinical syndromes with an overlapping molecular basis, important differences in the pathological features and results from experimental models indicate that ALS-FUSand FTLD-FUS have distinct pathogenic mechanisms.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada.
authors.forename: Ian R A
authors.initials: IRA
authors.lastname: Mackenzie
authors.affiliation: Department of Neuropathology, University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.
authors.forename: Manuela
authors.initials: M
authors.lastname: Neumann
mesh_terms: D006801:Humans; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000473:pathology*; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: C000599550:FUS protein, human; D034702:RNA-Binding Protein FUS