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Article

Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene.

Archives of neurology - 1 May 2001

Hahn H, Trant M R, Brownstein M J, Harper R A, Milstien S, Butler I J

Abstract excerpt

OBJECTIVE: To investigate the range of clinical features to correlate genotypic and phenotypic manifestations in hereditary progressive and/or levodopa-responsive dystonia due to a defect in the guanosine triphosphate-cyclohydrolase (GCH1) gene. DESIGN AND SETTING: A large family from Texas was studied in an ambulatory setting by clinicians in genetics, neurology, and psychiatry using structured interviews and...

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Identifiers

PMID: 11346370
DOI: 10.1001/archneur.58.5.749

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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