Case Reports
doi: 10.1212/wnl.55.12.1926.
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
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- PMID: 11134401
- DOI: 10.1212/wnl.55.12.1926
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Case Reports
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
Neurology.
.
Abstract
Tyrosine hydroxylase deficiency was confirmed biochemically and genetically in four unrelated Dutch patients. The patients have a hypokinetic-rigid parkinsonian syndrome with symptoms in early infancy (3 to 6 months of age). Only sporadic dystonic movements were seen. There was no diurnal fluctuation. All patients showed a rapid favorable response to low-dose L-dopa/carbidopa treatment. Motor performance improved but did not fully normalize. The patients have mild mental retardation.
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