The genetics of motor neuron diseases

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Dec;4(4):225-31. doi: 10.1080/14660820310011287.

Abstract

Motor neuron diseases may be divided into three categories: those with lower motor neuron involvement--spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA or Kennedy's disease); those with upper motor neuron involvement--primary lateral sclerosis (PLS) and the spastic paraplegias; and those with combined upper and lower motor neuron involvement--amyotrophic lateral sclerosis (ALS). Other familial motor neuron disorders include hereditary neuronopathies, GM2 gangliosidosis, and possibly the ALS/PD syndrome of Guam. The contribution of genetics to the etiopathogenesis of motor neuron considerably, accounting for a high percentage of spinal muscular atrophies, but only a small fraction of cases of ALS. The mode of inheritance also varies, with examples of autosomal dominant (AD), autosomal recessive (AR), or X-linked kindreds. (Tables 1 and 2).

Publication types

  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / classification
  • Amyotrophic Lateral Sclerosis / genetics
  • Animals
  • Gangliosidoses, GM2 / etiology
  • Gangliosidoses, GM2 / genetics
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Humans
  • Motor Neuron Disease / genetics*
  • Muscular Atrophy, Spinal / classification
  • Muscular Atrophy, Spinal / etiology
  • Muscular Atrophy, Spinal / genetics
  • Receptors, Androgen / genetics*
  • Trinucleotide Repeats / genetics*

Substances

  • Receptors, Androgen