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Dystonia in homocystinuria
P A Kempster1, D P Brenton, A N Gale
1Department of Clinical Neurology, Faculty of Clinical Sciences, University College, London, UK.
Journal of Neurology, Neurosurgery, and Psychiatry
|June 1, 1988
Summary
Homocystinuria patients with cystathionine beta-synthase deficiency can develop dystonia not caused by stroke. Neurochemical changes in the basal ganglia may underlie this movement disorder.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Homocystinuria is an inherited metabolic disorder caused by cystathionine beta-synthase deficiency.
- Neurological complications in homocystinuria are often attributed to cerebrovascular thrombosis.
- Progressive generalized dystonia is a rare but significant neurological manifestation.