Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

Neurology. 2006 Nov 14;67(9):1710-2. doi: 10.1212/01.wnl.0000242619.52335.bc.

Abstract

We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations.

Publication types

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

MeSH terms

  • Adult
  • Aged, 80 and over
  • Anticodon / genetics
  • Axons / metabolism
  • Axons / pathology
  • Binding Sites / genetics
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Child
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Glycine-tRNA Ligase / genetics*
  • Humans
  • Male
  • Motor Neurons / metabolism
  • Motor Neurons / pathology
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics*
  • Protein Biosynthesis / genetics
  • Protein Structure, Tertiary / genetics
  • Spinal Muscular Atrophies of Childhood / genetics*
  • Spinal Muscular Atrophies of Childhood / physiopathology
  • Wallerian Degeneration / genetics
  • Wallerian Degeneration / metabolism
  • Wallerian Degeneration / physiopathology

Substances

  • Anticodon
  • Glycine-tRNA Ligase