A case of multiple system atrophy with hyperglycinaemia due to a selective deficiency of glycine transporter mRNA

Neuropathol Appl Neurobiol. 1998 Oct;24(5):353-8. doi: 10.1046/j.1365-2990.1998.00136.x.

Abstract

A patient presented with features of olivopontocerebellar atrophy and was found to have marked hyperglycinaemia. Severe atrophy of the cerebellum and brain stem was found at post-mortem, with numerous glial cytoplasmic inclusions (GCIs) in atrophic areas, characteristic of multiple system atrophy. In situ hybridization studies of the spinal cord demonstrated a selective reduction in expression of glycine transporter mRNA. We suggest that the resulting impairment of regulation of glycine concentrations at synaptic level resulted in excitotoxic damage to neurons.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Transport Systems, Neutral*
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cerebral Ventricles / pathology
  • Female
  • Gene Expression / physiology
  • Glycine / blood*
  • Glycine Plasma Membrane Transport Proteins
  • Humans
  • In Situ Hybridization
  • Middle Aged
  • Neurotransmitter Agents / genetics
  • Neurotransmitter Agents / metabolism
  • Olivopontocerebellar Atrophies / metabolism*
  • Olivopontocerebellar Atrophies / pathology*
  • RNA, Messenger / analysis
  • Spinal Cord / chemistry
  • Spinal Cord / metabolism
  • Spinal Cord / pathology
  • Substantia Nigra / pathology

Substances

  • Amino Acid Transport Systems, Neutral
  • Carrier Proteins
  • Glycine Plasma Membrane Transport Proteins
  • Neurotransmitter Agents
  • RNA, Messenger
  • Glycine