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Article

Low frequency of GCH1 and TH mutations in Parkinson's disease.

Parkinsonism & related disorders - 1 Aug 2016

Rengmark Aina, Pihlstrøm Lasse, Linder Jan, Forsgren Lars, Toft Mathias

Abstract excerpt

BACKGROUND: The causes of Parkinson's disease (PD) are unknown in the majority of patients. The GCH1 gene encodes GTP-cyclohydrolase I, an important enzyme in dopamine synthesis. Co-occurrence of dopa-responsive dystonia (DRD) and a PD phenotype has been reported in families with GCH1 mutations. Recently, rare coding variants in GCH1 were found to be enriched in PD patients, indicating a role for the enzyme in...

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Source

Identifiers

PMID: 27185167
DOI: 10.1016/j.parkreldis.2016.05.010

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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