Article
Pathogenic Variant in the 5'-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2025
Li Yanting, Li Mingqiang, Liu Lanqing, Sun Qiying, Yang Guang
Abstract excerpt
Background: Variants in the GCH1 gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease. Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants...
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