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Article

GCH1 in early-onset Parkinson's disease.

Movement disorders : official journal of the Movement Disorder Society - 30 Oct 2009

Cobb Stephanie A, Wider Christian, Ross Owen A, Mata Ignacio F, Adler Charles H, Rajput Alex, Rajput Ali H, Wu Ruey-Meei, Hauser Robert, Josephs Keith A, Carr Jonathan, Gwinn Katrina, Heckman Michael G, Aasly Jan O, Lynch Timothy, Uitti Ryan J, Wszolek Zbigniew K, Kapatos Gregory, Farrer Matthew J

Abstract excerpt

Mutations in GTP-cyclohydrolase 1 (GCH1) cause autosomal dominant dopa-responsive dystonia (DRD), characterized by childhood-onset foot dystonia that later generalizes. DRD patients frequently present with associated Parkinsonism. Conversely, early-onset Parkinson's disease (EOPD) patients common...

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Source

Identifiers

PMID: 19735094
DOI: 10.1002/mds.22729

Genes

GCH1
PRKN
PINK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19735094-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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