title: A clinicopathological study of a patient with familial amyotrophic lateral sclerosis associated with a two base pair deletion in the copper/zinc superoxide dismutase (SOD1) gene.
abstract: The recognition of mutations in the copper/zinc superoxide dismutase (SOD1) gene in familial amyotrophic lateral sclerosis (FALS) has been a landmark in ALS research. We report a clinicopathological study of a female patient with FALS showing a two base pair deletion in exon 5 of the SOD1 gene. Her clinical course was rapid and she died 2 years after the onset. The SOD1 activity was down to 30% of the normal level. Western blot analysis did not reveal the mutant protein which was expected to be approximately 2.4 kDa smaller than normal SOD1 protein in molecular mass. In contrast to the neuropathological findings of the previously reported cases showing the same mutation, our case was characterized by sparing of the dorsal column and the presence of only a modest number of intracytoplasmic eosinophilic inclusions showing weak or partial immunoreaction for neurofilament and negative reaction for SOD1. Thus, the same mutation in the SOD1 gene does not necessarily induce consistent pathological changes in the central nervous system.
authors.affiliation: Department of Neurology, Osaka University Medical School, Suita, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Kadekawa
authors.forename: H
authors.initials: H
authors.lastname: Fujimura
authors.forename: Y
authors.initials: Y
authors.lastname: Ogawa
authors.forename: N
authors.initials: N
authors.lastname: Hattori
authors.forename: M
authors.initials: M
authors.lastname: Kaido
authors.forename: T
authors.initials: T
authors.lastname: Nishimura
authors.forename: H
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: N
authors.initials: N
authors.lastname: Shirahata
authors.forename: S
authors.initials: S
authors.lastname: Sakoda
authors.forename: T
authors.initials: T
authors.lastname: Yanagihara
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D015153:Blotting, Western; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017384:Sequence Deletion; D013116:Spinal Cord / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism
chemical_list: D013482:Superoxide Dismutase