{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:08:24Z","timestamp":1792084104131,"version":"4.4.0"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:00:00Z","timestamp":1760140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:00:00Z","timestamp":1760140800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100018231","name":"Aligning Science Across Parkinson's","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018231","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,1]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n The aim was to assess the frequency of dystonia\u2010linked pathogenic variants in PD.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n 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\u2010Parkinson's Disease (AMP\u2010PD) for variants in genes linked to isolated dystonia, dystonia\u2010parkinsonism, and myoclonus\u2010dystonia.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Pathogenic variants were identified only in PD patients. Forty\u2010five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia\u2010linked genes, most frequently in\n GCH1<\/jats:italic>\n , followed by\n VPS16<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Though rare, pathogenic variants in dystonia\u2010linked genes are present in clinically and pathologically diagnosed PD. Our results reinforce\n GCH1<\/jats:italic>\n as a PD\u2010relevant gene with clinical implications, whereas variants identified in other genes are rare and of uncertain relation to the PD phenotype. \u00a9 2025 The Author(s).\n Movement Disorders<\/jats:italic>\n published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.70073","type":"journal-article","created":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:09:43Z","timestamp":1760177383000},"page":"247-259","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Rare but Relevant? Assessing Variants in Dystonia\u2010Linked Genes in Parkinson's Disease"],"prefix":"10.1002","volume":"41","author":[{"given":"Lara M.","family":"Lange","sequence":"first","affiliation":[{"name":"Laboratory of Neurogenetics National Institute on Aging Bethesda Maryland USA"},{"name":"Institute of Neurogenetics University of Luebeck Luebeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zih\u2010Hua","family":"Fang","sequence":"additional","affiliation":[{"name":"German Center for Neurodegenerative Diseases (DZNE) T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurel","family":"Screven","sequence":"additional","affiliation":[{"name":"Global Parkinson's Genetics Program (GP2) Chevy Chase Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2979-3839","authenticated-orcid":false,"given":"Ai Huey","family":"Tan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy N.","family":"Alcalay","sequence":"additional","affiliation":[{"name":"Neurological Institute, Tel Aviv Sourasky Medical Center Tel Aviv Israel"},{"name":"Department of Neurology Columbia Irving Medical School New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rim","family":"Amouri","sequence":"additional","affiliation":[{"name":"National Institute Mongi Ben Hamida of Neurology Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Bovenzi","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Systems Medicine Tor Vergata University of Rome Rome Italy"},{"name":"Department of Neurology Northwestern University Feinberg School of Medicine Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilda","family":"Fenn","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua L.I.","family":"Frost","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Jankovic","sequence":"additional","affiliation":[{"name":"Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic Baylor College of Medicine Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Jasaityte","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zane","family":"Jaunmuktane","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London United Kingdom"},{"name":"Queen Square Brain Bank for Neurological Disorders UCL Queen Square Institute of Neurology London United Kingdom"},{"name":"Division of Neuropathology, National Hospital for Neurology and Neurosurgery University College London NHS Foundation Trust London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2491-3544","authenticated-orcid":false,"given":"Beomseok","family":"Jeon","sequence":"additional","affiliation":[{"name":"Department of Neurology Seoul National University Hospital Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio Juan Keller","family":"Sarmiento","sequence":"additional","affiliation":[{"name":"Department of Neurology Northwestern University Feinberg School of Medicine Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rejko","family":"Kr\u00fcger","sequence":"additional","affiliation":[{"name":"Luxembourg Centre for Systems Biomedicine (LCSB) University of Luxembourg Esch\u2010sur\u2010Alzette Luxembourg"},{"name":"Luxembourg Institute of Health (LIH), Strassen, Luxembourg and Centre Hospitalier de Luxembourg (CHL) Esch\u2010sur\u2010Alzette Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregor","family":"Kuhlenb\u00e4umer","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Schleswig\u2010Holstein (UKSH) Kiel 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de Sevilla, Hospital Universitario Virgen del Roc\u00edo\/Consejo Superior de Investigaciones Cient\u00edficas (CSIC)\/Universidad de Sevilla Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia Ben","family":"Sassi","sequence":"additional","affiliation":[{"name":"National Institute Mongi Ben Hamida of Neurology Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2517-6278","authenticated-orcid":false,"given":"Tommaso","family":"Schirinzi","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Systems Medicine Tor Vergata University of Rome Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4182-3612","authenticated-orcid":false,"given":"Jung Hwan","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Neurology Seoul National University Hospital Seoul South 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