Spinal Muscular Atrophy

Curr Opin Neurol. 1997 Oct;10(5):381-5. doi: 10.1097/00019052-199710000-00005.

Abstract

Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism. Further work is required to define clearly the mechanism by which the survival of motor neuron gene defect would result in motor neuron degeneration.

Publication types

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

MeSH terms

  • Child
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Genes, Recessive / genetics
  • Humans
  • Motor Neurons / pathology
  • Nerve Degeneration / diagnosis
  • Nerve Degeneration / genetics
  • Nerve Degeneration / pathology
  • RNA / metabolism
  • Spinal Cord / pathology
  • Spinal Muscular Atrophies of Childhood / diagnosis
  • Spinal Muscular Atrophies of Childhood / genetics*
  • Spinal Muscular Atrophies of Childhood / pathology

Substances

  • RNA