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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.
Insights
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.
Abstract:
Three patients with homocystinuria due to cystathionine beta-synthase deficiency who developed progressive generalised dystonia are described. Although cerebrovascular thrombosis is usually thought to be responsible for neurological dysfunction in homocystinuric patients, neuropathological studies in one case and clinical and radiological evidence in the other two suggested that dystonia was not caused by brain infarction. Movement disorder associated with homocystinuria may result from the neurochemical changes in the basal ganglia related to the inherited defect in sulphur amino acid metabolism.