title: Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.
abstract: We report a patient with sporadic amyotrophic lateral sclerosis (ALS) with a novel fusion in malignant liposarcoma (FUS) gene mutation whose neurological signs were conspicuous left-sided rigidity and apraxia. A novel heterozygous guanine (G)-to-thymine (T) transition at position 1392, c.1392G>T, leading to a methionine-to-isoleucine substitution (p.Met464Ile), was found in exon13 of FUS. Re-sequencing of the genes for superoxide dismutase 1 (SOD1) and transactive response-DNA binding protein (TARDBP) revealed no mutations. The present findings suggest that this novel FUS mutation (p.Met464Ile) is related to manifestations of ALS as well as clinical features of corticobasal degeneration.
authors.affiliation: Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku-gun, Ishikawa 920-0293, Japan. say-3@kanazawa-med.ac.jp
authors.forename: Shigemi
authors.initials: S
authors.lastname: Nagayama
authors.forename: Naomi
authors.initials: N
authors.lastname: Minato-Hashiba
authors.forename: Michiyo
authors.initials: M
authors.lastname: Nakata
authors.forename: Muichi
authors.initials: M
authors.lastname: Kaito
authors.forename: Megumi
authors.initials: M
authors.lastname: Nakanishi
authors.forename: Keiko
authors.initials: K
authors.lastname: Tanaka
authors.forename: Makoto
authors.initials: M
authors.lastname: Arai
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Akiyama
authors.forename: Makoto
authors.initials: M
authors.lastname: Matsui
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology*; D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: D034702:RNA-Binding Protein FUS