Dopa-responsive dystonia: a clinical and molecular genetic study.

doi:10.1002/ana.410440411

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Article

Dopa-responsive dystonia: a clinical and molecular genetic study.

Annals of neurology - 1 Oct 1998

Bandmann O, Valente E M, Holmans P, Surtees R A, Walters J H, Wevers R A, Marsden C D, Wood N W

Abstract excerpt

We have studied the GTP-cyclohydrolase 1 (GCH-1) gene in 30 patients with the diagnosis of clinically definite (n = 20) or possible (n = 10) dopa-responsive dystonia (DRD) as well as in a child with atypical phenylketonuria due to complete GCH-1 deficiency. A large number of new heterozygote muta...

Topics

5' Untranslated Regions
Adolescent
Adult
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
DNA, Recombinant
Dihydroxyphenylalanine
Dystonia
Female
GTP Cyclohydrolase
Gene Deletion
Genes, Regulator
Humans
Male
Phenotype
Phenylketonurias

Source

Open in PubMed

Identifiers

PMID: 9778264
DOI: 10.1002/ana.410440411

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9778264-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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