Unraveling the mechanisms involved in motor neuron degeneration in ALS

Annu Rev Neurosci. 2004:27:723-49. doi: 10.1146/annurev.neuro.27.070203.144244.

Abstract

Although Charcot described amyotrophic lateral sclerosis (ALS) more than 130 years ago, the mechanism underlying the characteristic selective degeneration and death of motor neurons in this common adult motor neuron disease has remained a mystery. There is no effective remedy for this progressive, fatal disorder. Modern genetics has now identified mutations in one gene [Cu/Zn superoxide dismutase (SOD1)] as a primary cause and implicated others [encoding neurofilaments, cytoplasmic dynein and its processivity factor dynactin, and vascular endothelial growth factor (VEGF)] as contributors to, or causes of, motor neuron diseases. These insights have enabled development of model systems to test hypotheses of disease mechanism and potential therapies. Along with errors in the handling of synaptic glutamate and the potential excitotoxic response this provokes, these model systems highlight the involvement of nonneuronal cells in disease progression and provide new therapeutic strategies.

Publication types

  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / etiology*
  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / metabolism
  • Animals
  • Dyneins / metabolism
  • Glutamic Acid / metabolism
  • Glutamic Acid / toxicity
  • Humans
  • Models, Neurological
  • Motor Neurons / metabolism*
  • Motor Neurons / pathology
  • Nerve Degeneration / etiology*
  • Nerve Degeneration / genetics
  • Nerve Degeneration / metabolism
  • Neurofilament Proteins / metabolism
  • Superoxide Dismutase / deficiency
  • Superoxide Dismutase / genetics
  • Vascular Endothelial Growth Factor A / metabolism

Substances

  • Neurofilament Proteins
  • Vascular Endothelial Growth Factor A
  • Glutamic Acid
  • Superoxide Dismutase
  • Dyneins