Nuerological finding in triosephosphate isomerase deficiency
- 1 May 1985
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 17 (5), 439-443
- https://doi.org/10.1002/ana.410170504
Abstract
Two siblings with hemolytic anemia caused by triosephosphate isomerase deficiency developed a progressive neurological syndrome featuring dystonic movements, tremor, pyramidal tract signs, and evidence of spinal motor neuron involvement. Intelligence was unaffected. The findings in these patients and in 14 previously published cases indicate that neurological manifestations are an integral part of the disorder and suggest that specific structures in the basal ganglia, brainstem, and spinal cord bear the brunt of the pathological process, which does not affect the cerebral cortex.This publication has 8 references indexed in Scilit:
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