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Schirinzi, Tommaso

0000-0002-2517-6278

Mayo Clinic

Neurology Unit, Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy.

Citations 1

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease
Screven, Laurel A. , Tan, Ai Huey , Fenn, Matilda, Frost, Joshua L.I., Jankovic, Joseph, Jasaityte, Simona , Jeon, Beomseok , Sarmiento, Ignacio Juan Keller , Krüger, Rejko , Kuhlenbäumer, Gregor , Schirinzi, Tommaso , Shulman, Joshua M., Uitti, Ryan J. , Wu, Lesley , Zeuner, Kirsten E., Blauwendraat, Cornelis , Singleton, Andrew, Lohmann, Katja , (GP2), the Global Parkinson's Genetics Program, Tan, Ai Huey , Jeon, Beom Seok , Lin, Chin-Hsien , Schirinzi, Tommaso , Shin, Jung Hwan , Tay, Yi Wen , Uitti, Ryan, Warner, Thomas T. , Wszolek, Z.K. , Wu, Ruey-Meei , Blauwendraat, Cornelis , Morris, Huw R , Lohmann, Katja , Lange, Lara Mariah , Fang, Zih‐Hua , Alcalay, Roy N. , Amouri, Rim , Bovenzi, Roberta , Frost, Joshua L.I., Jankovic, Joseph J. , Jaunmuktane, Zane , Lin, Chin‐Hsien , Pavelka, Lukas , Periñán, María Teresa , Sassi, Samia Ben , Shulman, Joshua M. , Wszołek, Zbigniew K. , Wu, Ruey‐Meei , Singleton, Andrew , Mencacci, Niccolò Emanuele , Morris, Huw R. , Lim, Shen‐Yang , Klein, Christine , (GP2), the Global Parkinson's Genetics Program

Movement Disorders | October 11, 2025 | Volume: 41 | Issue: 1 | Pages: 247-259

10.1002/mds.70073 Get It

Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. 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.