Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease
Lara Mariah Lange, Zih‐Hua Fang, Laurel A. Screven, Ai Huey Tan, Roy N. Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L.I. Frost, Joseph J. Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, , the Global Parkinson's Genetics Program (GP2)
The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.
Movement Disorders · Oct 11, 2025Peer-reviewedGenetic & Genomic Medicine