A SOD1 gene mutation in a patient with slowly progressing familial ALS

Neurology. 1999 Jul 22;53(2):404-6. doi: 10.1212/wnl.53.2.404.

Abstract

We report a new missense mutation (Gly12Arg) [corrected] in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene in a 67-year-old patient with familial ALS (FALS). The clinical course showed an unusually slow progression. The enzymatic activity of the mutated SOD1 was 80% of normal. At the molecular level, the Gly12Arg [corrected] mutation occurs in a region outside the active site and may lead to local distortion strain in the protein structure.

Publication types

  • Case Reports

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Exons
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Pedigree
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1
  • Time Factors

Substances

  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1