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Article

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Movement disorders : official journal of the Movement Disorder Society - 1 May 2006

Hjermind Lena Elisabeth, Johannsen Lis Gitte, Blau Nenad, Wevers Ron Allan, Lucking Christoph-Burkhard, Hertz Jens Michael, Friberg Lars, Regeur Lisbeth, Nielsen Jørgen Erik, Sørensen Sven Asger

Abstract excerpt

We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-FP-CIT) binding ratios indicative of Parkinson's disease. We conclude that the patient probably suffers from a variant of dopa-responsive dystonia (DRD) or...

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Source

Identifiers

PMID: 16267845
DOI: 10.1002/mds.20773

Genes

CIT
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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Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?PMID 16267845Read ↗

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