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

doi:10.1038/ng1194-236

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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...

Topics

Age of Onset
Biopterins
Brain
Chromosome Mapping
Chromosomes, Human, Pair 14
Circadian Rhythm
Cloning, Molecular
DNA Mutational Analysis
Dopamine
Dystonia
Escherichia coli

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

GTP Cyclohydrolase

Heterozygote

Humans

Hybrid Cells

Levodopa

Male

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Open in PubMed

Identifiers

PMID: 7874165
DOI: 10.1038/ng1194-236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7874165-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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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 ↗

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 ↗

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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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