Premium
Nuerological finding in triosephosphate isomerase deficiency
Author(s) -
PollThe Bwee Tien,
Aicardi Jean,
Girot Robert,
Rosa R.
Publication year - 1985
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410170504
Subject(s) - triosephosphate isomerase , basal ganglia , spinal cord , brainstem , pyramidal tracts , neuroscience , neurological disorder , pathological , medicine , central nervous system disease , pathology , psychology , central nervous system , biology , biochemistry , gene
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.