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A case of multiple system atrophy with hyperglycinaemia due to a selective deficiency of glycine transporter mRNA
R J Lane1, L Virgo, P L Lantos
1Division of Clinical Neuroscience and Psychological Medicine, Imperial College School of Medicine, London, UK.
Neuropathology and Applied Neurobiology
|November 20, 1998
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.