Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

Mol Cell Probes. 1994 Aug;8(4):329-30. doi: 10.1006/mcpr.1994.1046.


We have been screening a cohort of 46 sporadic and 10 familial amyotrophic lateral sclerosis patients for mutations in the superoxide dismutase gene (SOD1) using a combination of SSCP and direct PCR sequencing. A novel missense mutation (Asp101Asn) has been detected in one sporadic patient and a previously reported mutation has been found in two familial cases.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / epidemiology
  • Amyotrophic Lateral Sclerosis / genetics*
  • Asia / ethnology
  • Cohort Studies
  • Exons*
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Scotland / epidemiology
  • Superoxide Dismutase / genetics*


  • Superoxide Dismutase