SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis

Ann Neurol. 1996 Jan;39(1):128-31. doi: 10.1002/ana.410390119.


Mutations in the Cu/Zn superoxide dismutase (SOD1) gene are found in 15 to 20% of patients with familial amyotrophic lateral sclerosis (FALS). Increased levels of neurofilament subunits in transgenic mouse models of ALS also suggests a key role for these proteins in the pathogenesis of the disease. We report the coexistence of an Ile113-->Thr substitution in exon 4 of the SOD1 gene and marked neurofilamentous pathology in the same FALS patient. These observations suggest that two mechanisms, SOD1-induced toxicity and neurofilament disruption, are acting together.

Publication types

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

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / genetics*
  • Base Sequence
  • Female
  • Humans
  • Molecular Sequence Data
  • Neurofilament Proteins / genetics*
  • Point Mutation*
  • Superoxide Dismutase / genetics*


  • Neurofilament Proteins
  • Superoxide Dismutase