Lin, Chin-Hsien
Mayo Clinic
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Citations 2
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
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.
Population‐specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium
Soto‐Ortolaza, Alexandra I., Aasly, Jan , Abahuni, Nadine, Annesi, Grazia , Bacon, Justin A., Bardien, Soraya , Bozi, Maria , Brice, Alexis , Brighina, Laura , Carr, Jonathan , Chartier‐Harlin, Marie‐Christine , Dardiotis, Efthimios , Dickson, Dennis W. , Diehl, Nancy N. , Ferrarese, Carlo , Fiske, Brian , Gibson, Rachel A. , Hattori, Nobutaka , Ioannidis, John P. A. , Boczarska‐Jedynak, Magdalena , Jasińska‐Myga, Barbara, Jeon, Beom S., Kim, Yun Joong , Klein, Christine , Krüger, Rejko , Kyratzi, Elli, Lesage, Suzanne , Lin, Chin‐Hsien , Lynch, Timothy , Maraganore, Demetrius M. , Mellick, George D. , Mutez, Eugénie , Opala, Grzegorz, Park, Sung Sup , Petrucci, Simona , Puschmann, Andreas , Quattrone, Aldo , Sharma, Manu , Silburn, Peter A., Sohn, Young H. , Tadić, Vera, Theuns, Jessie , Tomiyama, Hiroyuki , Uitti, Ryan J. , Valente, Enza Maria , Broeckhoven, Christine Van , Loo, Simone van de, Vassilatis, Demetrios K. , Vilariño‐Güell, Carles , White, Linda R., Wirdefeldt, Karin , Wu, Ruey‐Meei , Hentati, Fayçal, Farrer, Matthew J. , Ross, Owen A. , Soto‐Beasley, Alexandra I. , Heckman, Michael G. , Elbaz, Alexis , Gibson, Jonathan M. , Hadjigeorgiou, Georgios M. , Nilsson, Christer C. , Stefanis, Leonidas , Wszołek, Zbigniew K. , Dickson, Dennis W , Ross, Owen A , Puschmann, Andreas , Klein, Christine , Bardien, Soraya , Mutez, Eugénie , Valente, Enza Maria , Ioannidis, John P A , Beasley, Alexandra I , Carr, Jonathan , Brice, Alexis , Lin, Chin-Hsien , Wu, Ruey-Meei
Movement Disorders | August 2, 2013 | Volume: 28 | Issue: 12 | Pages: 1740-1744
ABSTRACTBackgroundVariants within the leucine‐rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine‐rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late‐onset sporadic disorders like Parkinson's disease.MethodsThe Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine‐rich repeat kinase 2 gene across 23 different sites in 15 countries.ResultsHerein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K‐R1398H‐K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups.ConclusionsEstablishing individual patient‐based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. © 2013 International Parkinson and Movement Disorder Society