Literature DB >> 11134401

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.

J F de Rijk-Van Andel1, F J Gabreëls, B Geurtz, G C Steenbergen-Spanjers, L P van Den Heuvel, J A Smeitink, R A Wevers.   

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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Year:  2000        PMID： 11134401     DOI： 10.1212/wnl.55.12.1926

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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