Amyotrophic lateral sclerosis: pathogenesis

Semin Neurol. 2001 Jun;21(2):131-9. doi: 10.1055/s-2001-15260.

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating paralytic disorder caused by motor neuron degeneration. A subgroup of familial cases arises from mutations in the gene encoding cytosolic superoxide dismutase (SOD1). This review considers insight now being gained into ALS pathogenesis from the study of mutant SOD1 protein and its possible mechanisms of adverse effect on nerve cells. Also discussed are the status of other genetic forms of ALS and the elusive question of why this disorder so specifically targets motor neurons. Ultimately, it is hoped that insights from these types of studies will improve the prospects for developing meaningful therapies of ALS.

Publication types

  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Animals
  • Humans
  • Mice
  • Motor Neurons / physiology
  • Mutation / genetics
  • Neurons / physiology
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase-1

Substances

  • SOD1 protein, human
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1