Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
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Lange Lara M, Fang Zih-Hua, Screven Laurel, Tan Ai Huey, Alcalay Roy N, Amouri Rim, Bovenzi Roberta, Fenn Matilda, Frost Joshua L I, Jankovic Joseph, Jasaityte Simona, Jaunmuktane Zane, Jeon Beomseok, Sarmiento Ignacio Juan Keller, Krüger Rejko, Kuhlenbäumer Gregor, Lin Chin-Hsien, Pavelka Lukas, Periñan Maria Teresa, Sassi Samia Ben, Schirinzi Tommaso, Shin Jung Hwan, Shulman Joshua M, Tay Yi Wen, Uitti Ryan, Warner Tom, Wszolek Zbigniew K, Wu Lesley, Wu Ruey-Meei, Zeuner Kirsten E, Blauwendraat Cornelis, Singleton Andrew, Mencacci Niccolò E, Morris Huw R, Lim Shen-Yang, Lohmann Katja, Klein Christine, Global Parkinson's Genetics Program (GP2)
Аннотация
OBJECTIVE: The aim was to assess the frequency of dystonia-linked pathogenic variants in PD.
METHODS: We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.
RESULTS: Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most frequently in GCH1, followed by VPS16.
CONCLUSION: Though rare, pathogenic variants in dystonia-linked genes are present in clinically and pathologically diagnosed PD. Our results reinforce GCH1 as a PD-relevant gene with clinical implications, whereas variants identified in other genes are rare and of uncertain relation to the PD phenotype. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.