Amyotrophic lateral sclerosis associated with mutations in superoxide dismutase: a putative mechanism of degeneration

Brain Res Brain Res Rev. 1999 Jan;29(1):121-35. doi: 10.1016/s0165-0173(98)00049-6.

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating neurologic disease that rapidly progresses from mild motor symptoms to severe motor paralysis and premature death. Until recently, there were few substantive studies conducted on the pathogenesis of the disease. With the genetic linkage of mutations in the superoxide dismutase (SOD-1) gene with familial ALS patients, new avenues for study have become available including transgenic mice and culture models. Although not yet providing a complete picture of the disease mechanism, studies utilizing these model systems have greatly advanced our understanding of the mechanism of degeneration and should eventually lead to putative therapeutic agents. In this review, we will present the important findings from these model systems, provide a framework in which to evaluate these findings, and speculate on the mechanism of degeneration initiated by the mutations in SOD-1.

Publication types

  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Animals
  • Humans
  • Mice
  • Mice, Transgenic / genetics
  • Mutation / physiology*
  • Nerve Degeneration / genetics*
  • Superoxide Dismutase / genetics*

Substances

  • Superoxide Dismutase