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Article

Molecular genetics of hereditary dystonia--mutations in the GTP cyclohydrolase I gene.

Brain research bulletin - 1 Jan 1997

Ichinose H, Nagatsu T

Abstract excerpt

We found that mutations of GTP cyclohydrolase I, the rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is the cofactor of dopamine-synthesizing tyrosine hydroxylase, cause dominantly inherited hereditary progressive dystonia with marked diurnal fluctuation (HPD, Segawa's disease) probably owing to the decrease of dopamine in the basal ganglia. These results indicate that tyrosine hydroxylase...

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Source

Identifiers

PMID: 9205791
DOI: 10.1016/s0361-9230(96)00353-x

Genes

HPD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular genetics of hereditary dystonia--mutations in the GTP cyclohydrolase I gene.PMID 9205791Read ↗

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.Semantic proximity Read ↗

Gene symbol: GTP cyclohydrolase I (GCH-I). Disease: dopa-responsive dystonia.Semantic proximity Read ↗

Tetrahydrobiopterin metabolism and GTP cyclohydrolase I mutations in L-dopa-responsive dystonia.Semantic proximity Read ↗

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.Semantic proximity Read ↗

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.Semantic proximity Read ↗

Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.Semantic proximity Read ↗

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.Semantic proximity Read ↗

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