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Article

Dopa-responsive dystonia and Tourette syndrome in a large Danish family.

Archives of neurology - 1 Apr 2003

Romstad Anne, Dupont Erik, Krag-Olsen Bente, Østergaard Karen, Guldberg Per, Güttler Flemming

Abstract excerpt

BACKGROUND: Guanosine triphosphate cyclohydrolase I (GTPCH) catalyzes the first step in the synthesis of tetrahydrobiopterin (BH4). Autosomal dominantly inherited defects in the GTPCH gene (GCH1) cause a form of dystonia that is responsive to treatment with levodopa (dopa-responsive dystonia [DRD]). OBJECTIVE: To investigate molecular and clinical aspects of DRD in a large Danish family. METHODS: For analysis of...

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Identifiers

PMID: 12707079
DOI: 10.1001/archneur.60.4.618

Genes

GCH1

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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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