Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis

Can J Neurol Sci. 1998 Aug;25(3):192-6. doi: 10.1017/s0317167100034004.


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SOD1) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds and identified 10 mutations, 6 of which are novel. Surprisingly, we have found a mutation in exon 3, which includes most of the active site loop and Zn2+ binding sites, a region where no previous SOD1 mutations have been found. Our data increase the number of different SOD1 mutations causing FALS to 55, a significant fraction of the 154 amino acids of this relatively small protein.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / enzymology*
  • Amyotrophic Lateral Sclerosis / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Primers
  • Genes, Dominant
  • Genetic Testing
  • Humans
  • Molecular Sequence Data
  • Mutation / physiology*
  • Polymerase Chain Reaction
  • Species Specificity
  • Superoxide Dismutase / genetics*


  • DNA Primers
  • DNA
  • Superoxide Dismutase