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Article

Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 1998

Tamaru Y, Hirano M, Ito H, Kawamura J, Matsumoto S, Imai T, Ueno S

Abstract excerpt

OBJECTIVE: Hereditary progressive dystonia with pronounced diurnal fluctuation [(HPD)/dopa responsive dystonia (DRD)] is a childhood onset dystonia which responds to levodopa. Various clinical signs and symptoms of HPD/DRD have been recognised to date. Mutations in the GTP cyclohydrolase I (GTP-CH-I) gene were recently identified as the cause of HPD/ DRD. In the present study, the GTP-CH-I gene and the clinical...

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Source

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Identifiers

PMID: 9576537
DOI: 10.1136/jnnp.64.4.469
PMCID: PMC2170031

Genes

HPD

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Source receipt: pubmed, retrieved 7 Sept 2026.

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