Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease
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.
Authors
- Katja Lohmann (ORCID: https://orcid.org/0000-0002-5121-1460)
- Ryan J. Uitti (ORCID: https://orcid.org/0000-0001-8113-4710)
- Thomas T. Warner (ORCID: https://orcid.org/0000-0001-6195-6995)
- Lesley Wu (ORCID: https://orcid.org/0000-0001-5464-5603)
- Zbigniew K. Wszołek (ORCID: https://orcid.org/0000-0001-5487-1053)
- Zih‐Hua Fang (ORCID: https://orcid.org/0000-0002-0225-8772)
- Christine Klein (ORCID: https://orcid.org/0000-0003-2102-3431)
- Ruey‐Meei Wu (ORCID: https://orcid.org/0000-0002-4947-5467)
- Lukas Pavelka (ORCID: https://orcid.org/0000-0002-7721-3317)
- Chin‐Hsien Lin (ORCID: https://orcid.org/0000-0001-8566-7573)
- Roy N. Alcalay (ORCID: https://orcid.org/0000-0002-5717-4875)
- Jennifer M. Frost (ORCID: https://orcid.org/0000-0002-3057-6313)
- Lara Mariah Lange (ORCID: https://orcid.org/0000-0002-7162-9821)
- Niccolò Emanuele Mencacci (ORCID: https://orcid.org/0000-0003-3383-9665)
- Laurel A. Screven (ORCID: https://orcid.org/0009-0007-8630-6754)
- Shen‐Yang Lim (ORCID: https://orcid.org/0000-0002-6942-2522)
- Tommaso Schirinzi (ORCID: https://orcid.org/0000-0002-2517-6278)
- Beomseok Jeon (ORCID: https://orcid.org/0000-0003-2491-3544)
- Yi Wen Tay (ORCID: https://orcid.org/0000-0002-9319-0768)
- Zane Jaunmuktane (ORCID: https://orcid.org/0000-0001-7738-8881)
- Ai Huey Tan (ORCID: https://orcid.org/0000-0002-2979-3839)
- Rim Amouri (ORCID: https://orcid.org/0000-0001-5641-5748)
- Ignacio Juan Keller Sarmiento (ORCID: https://orcid.org/0000-0003-0979-6001)
- Rejko Krueger (ORCID: https://orcid.org/0000-0003-4258-6241)
- Cornelis Blauwendraat (ORCID: https://orcid.org/0000-0001-9358-8111)
- Jung Hwan Shin (ORCID: https://orcid.org/0000-0003-4182-3612)
- Samia Ben Sassi (ORCID: https://orcid.org/0000-0002-1002-5979)
- Roberta Bovenzi (ORCID: https://orcid.org/0009-0004-4824-0051)
- Huw R. Morris (ORCID: https://orcid.org/0000-0002-5473-3774)
- María Teresa Periñán (ORCID: https://orcid.org/0000-0001-7412-7440)
- Joseph Jankovic
- Joshua M. Shulman
- Simona Jasaityte (ORCID: https://orcid.org/0009-0009-6030-2901)
- Andrew Singleton
- Kirsten E. Zeuner
- Gregor Kuhlenbäumer
- Matilda Fenn
Institutions
- Northwestern University (US)
- University of Rome Tor Vergata (IT)
- University College London Hospitals NHS Foundation Trust (GB)
- Centre Hospitalier de Luxembourg (LU)
- Queen Mary University of London (GB)
- Baylor College of Medicine (US)
- University of Luxembourg (LU)
- Columbia University Irving Medical Center (US)
- Tel Aviv Sourasky Medical Center (IL)
- German Center for Neurodegenerative Diseases (DE)
- Jacksonville College (US)
- WinnMed (US)
- Seoul National University Hospital (KR)
- University of Malaya (MY)
- Luxembourg Institute of Health (LU)
- Centre for Movement Disorders (CA)
- University Hospital Schleswig-Holstein (DE)
- Neurological Research Institute (US)
- National Taiwan University Hospital (TW)
- Short and Associates (United States) (US)
- National Institute on Aging (US)
- Mayo Clinic in Florida (US)
- Texas Children's Hospital (US)
- National Hospital for Neurology and Neurosurgery (GB)
- Hospital Universitario Virgen del Rocío (ES)
- National Institute of Neurology Mongi-Ben Hamida (TN)
- University College London (GB)
- University of Lübeck (DE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-10-11
- DOI
- https://doi.org/10.1002/mds.70073
- Citations
- 2
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 1.68
Funders
- U.S. Department of Health and Human Services
- Michael J. Fox Foundation for Parkinson's Research
- Bristol-Myers Squibb
- Pfizer
- GlaxoSmithKline
- Sanofi
- Biogen
- Celgene
- Parkinson's Foundation
- Verily Life Sciences
- Parkinson's UK
- Deutsche Forschungsgemeinschaft
- National Health Research Institutes
- National Taiwan University Hospital
- National Taiwan University
- National Science and Technology Council
- National Institutes of Health
- Medical Research Council
- National Institute of Neurological Disorders and Stroke