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

Abstract

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… (More)
DOI: 10.1016/j.parkreldis.2015.01.004

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