Mutations in all five exons of SOD-1 may cause ALS

Ann Neurol. 1998 Mar;43(3):390-4. doi: 10.1002/ana.410430319.


Eight of 38 patients (21%) with familial and 5 of 175 patients (3%) with sporadic amyotrophic lateral sclerosis (ALS) had missense mutations in the SOD-1 gene. Two novel mutations were identified. One in exon 4 substituting leucine with phenylalanine (L84F) in a familial patient and the second in exon 3 at substituting glycine with serine (G72S) in an "apparently" sporadic patient. Over 60 point mutations have now been described in all five exons of SOD-1, involving 43 of the 153 residues. Hypotheses about the toxic role of mutant SOD-1 in the pathogenesis of ALS must account for this molecular diversity.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / genetics*
  • Exons / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Models, Molecular
  • Mutation*
  • Pedigree
  • Superoxide Dismutase / genetics*


  • Superoxide Dismutase