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Article

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.

Parkinsonism & related disorders - 1 Apr 2015

Lewthwaite A J, Lambert T D, Rolfe E B, Olgiati S, Quadri M, Simons E J, Morrison K E, Bonifati V, Nicholl D J

Abstract excerpt

BACKGROUND: GTP cyclohydrolase I (GCH1) mutations are the commonest cause of Dopa-responsive dystonia (DRD). Clinical phenotypes can be broad, even within a single family. METHODS: We present clinical, genetic and functional imaging data on a British kindred in which affected subjects display phenotypes ranging from DRD to Parkinson's disease (PD). Twelve family members were studied. Clinical examination,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25634433
DOI: 10.1016/j.parkreldis.2015.01.004
PMCID: PMC4379065

Genes

GCH1

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