A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course

Muscle Nerve. 2010 Oct;42(4):596-7. doi: 10.1002/mus.21750.

Abstract

Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been described in apparently sporadic ALS cases. We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Aspartic Acid
  • Atrophy
  • Disease Progression
  • Electromyography
  • Humans
  • Leg
  • Male
  • Muscle Weakness*
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology*
  • Mutation*
  • Peripheral Nerves / pathology
  • Phenotype
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1
  • Time Factors
  • Tyrosine

Substances

  • SOD1 protein, human
  • Aspartic Acid
  • Tyrosine
  • Superoxide Dismutase
  • Superoxide Dismutase-1