A case of multiple system atrophy with hyperglycinaemia due to a selective deficiency of glycine transporter mRNA.
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.
Lane
R J
RJ
Division of Clinical Neuroscience and Psychological Medicine, Imperial College School of Medicine, London, UK.
Virgo
L
L
Lantos
P L
PL
de Belleroche
J
J
D026921:Amino Acid Transport Systems, Neutral; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002552:Cerebral Ventricles / Q000473:pathology; D005260:Female; D015870:Gene Expression / Q000502:physiology; D005998:Glycine / Q000097:blood*; D050487:Glycine Plasma Membrane Transport Proteins; D006801:Humans; D017403:In Situ Hybridization; D008875:Middle Aged; D018377:Neurotransmitter Agents / Q000235:genetics / Q000378:metabolism; D009849:Olivopontocerebellar Atrophies / Q000378:metabolism* / Q000473:pathology*; D012333:RNA, Messenger / Q000032:analysis; D013116:Spinal Cord / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D013378:Substantia Nigra / Q000473:pathology
D026921:Amino Acid Transport Systems, Neutral; D002352:Carrier Proteins; D050487:Glycine Plasma Membrane Transport Proteins; D018377:Neurotransmitter Agents; D012333:RNA, Messenger; D005998:Glycine