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Article

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

Nature genetics - 1 Nov 1994

Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S

Abstract excerpt

Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1-q22.2. The identification of four independent mutations...

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Source

Identifiers

PMID: 7874165
DOI: 10.1038/ng1194-236

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.

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Related research

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.PMID 7874165Read ↗

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

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

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q.Semantic proximity Read ↗

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

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

[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].Semantic proximity Read ↗

A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.Semantic proximity Read ↗

Dopa-responsive dystonia.Semantic proximity Read ↗

Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystoniaSemantic proximity Read ↗

Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.Semantic proximity Read ↗

Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?Semantic proximity Read ↗

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