title: Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene.
abstract: Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.
authors.affiliation: Niigata University, Department of Pathology, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Makifuchi
authors.forename: R
authors.initials: R
authors.lastname: Nakano
authors.forename: S
authors.initials: S
authors.lastname: Sato
authors.forename: T
authors.initials: T
authors.lastname: Inuzuka
authors.forename: K
authors.initials: K
authors.lastname: Sakimura
authors.forename: M
authors.initials: M
authors.lastname: Mishina
authors.forename: Y
authors.initials: Y
authors.lastname: Honma
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: F
authors.initials: F
authors.lastname: Ikuta
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics*; D001921:Brain / Q000201:enzymology / Q000473:pathology; D001933:Brain Stem / Q000201:enzymology / Q000473:pathology; D002891:Chromosomes, Human, Pair 21; D004576:Electromyography; D005260:Female; D006801:Humans; D009154:Mutation; D009929:Organ Size; D010375:Pedigree; D013116:Spinal Cord / Q000201:enzymology / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase