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Article

Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.

Movement disorders : official journal of the Movement Disorder Society - 30 Jan 2008

Camargos Sarah Teixeira, Cardoso Francisco, Momeni Parastoo, Gianetti Juliana Gurgel, Lees Andrew, Hardy John, Singleton Andrew

Abstract excerpt

Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. There is marked diurnal fluctuation and sustained improvement of symptoms with low dose levodopa therapy. Heterozygous mutation of the gene GCH1 has been shown to cause DRD. We studied GCH1 in nine patients with DRD from six families of...

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Source

Identifiers

PMID: 18044725
DOI: 10.1002/mds.21842

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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