Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis

Amyotroph Lateral Scler. 2012 Oct;13(6):570-2. doi: 10.3109/17482968.2012.686512. Epub 2012 Jun 7.

Abstract

We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. His disease duration was 14 months, and he died of respiratory failure. The disease in this patient with the G37V mutation showed a rapid progression, although patients with G37R mutation are known to have a long survival.

Publication types

  • Case Reports

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology
  • Asian People
  • Autopsy / methods
  • Glycine / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Neurofilament Proteins / metabolism
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1
  • Valine / genetics*

Substances

  • Neurofilament Proteins
  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1
  • Valine
  • Glycine