Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies
Moderate single-nucleotide polymorphism-based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence-based GWASs (eg, by whole-genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Andrea A. Kühn (ORCID: https://orcid.org/0000-0002-4134-9060)
- Michael Zech (ORCID: https://orcid.org/0000-0001-8112-9153)
- Katja Lohmann (ORCID: https://orcid.org/0000-0002-5121-1460)
- Kristina Simonyan (ORCID: https://orcid.org/0000-0001-7444-0437)
- Simone Zittel (ORCID: https://orcid.org/0000-0002-3767-6376)
- Ebba Lohmann (ORCID: https://orcid.org/0000-0001-8695-7919)
- Susan Bressman (ORCID: https://orcid.org/0000-0002-3513-8048)
- Eckart Altenmüller (ORCID: https://orcid.org/0000-0003-3734-1178)
- Rachel Saunders‐Pullman (ORCID: https://orcid.org/0000-0001-8132-8806)
- Samuel Frank (ORCID: https://orcid.org/0000-0002-1866-162X)
- Laurie J. Ozelius (ORCID: https://orcid.org/0000-0002-7820-1684)
- Inke Regina König (ORCID: https://orcid.org/0000-0003-0504-6465)
- Christine Klein (ORCID: https://orcid.org/0000-0003-2102-3431)
- Anne Grözinger
- Azadeh Hamzehei Sichani (ORCID: https://orcid.org/0000-0001-7253-3277)
- Nutan Sharma (ORCID: https://orcid.org/0000-0002-4445-7374)
- Jens Volkmann (ORCID: https://orcid.org/0000-0002-9570-593X)
- Björn‐Hergen Laabs (ORCID: https://orcid.org/0000-0002-9265-5738)
- Joel S. Perlmutter (ORCID: https://orcid.org/0000-0003-3263-8917)
- Juliane Winkelmann (ORCID: https://orcid.org/0000-0003-2667-9691)
- Yan V. Sun (ORCID: https://orcid.org/0000-0002-2838-1824)
- Carlos C Cruchaga (ORCID: https://orcid.org/0000-0002-0276-2899)
- Alexander Maximilian Münchau (ORCID: https://orcid.org/0000-0002-3219-2284)
- Jeanne Feuerstein (ORCID: https://orcid.org/0000-0002-7701-3120)
- Alberto J. Espay (ORCID: https://orcid.org/0000-0002-3389-136X)
- Alexander Pantelyat (ORCID: https://orcid.org/0000-0002-6427-7485)
- Abhimanyu Mahajan (ORCID: https://orcid.org/0000-0001-8807-6672)
- Hyder A. Jinnah (ORCID: https://orcid.org/0000-0003-1531-3969)
- Robert Jech (ORCID: https://orcid.org/0000-0002-9732-8947)
- Frauke Hinrichs
- Frank J. Kaiser
- Laura Wright (ORCID: https://orcid.org/0000-0002-9953-6483)
- Sylvia Boesch (ORCID: https://orcid.org/0000-0003-1657-7368)
- Katja Kollewe
- Kevin R. Duque (ORCID: https://orcid.org/0000-0002-5981-3140)
- Tobias Reinberger (ORCID: https://orcid.org/0000-0002-6237-0803)
- Thomas Gasser (ORCID: https://orcid.org/0000-0002-1069-1146)
- Tobias Bäumer (ORCID: https://orcid.org/0000-0003-1014-1782)
- Sebastian Loens (ORCID: https://orcid.org/0000-0003-3067-5239)
- Bernhard Haslinger (ORCID: https://orcid.org/0000-0002-5513-1839)
- Steven Bellows (ORCID: https://orcid.org/0000-0001-7580-2241)
- Valerija Dobričić (ORCID: https://orcid.org/0000-0001-8559-1097)
- Norbert Brüggemann (ORCID: https://orcid.org/0000-0001-5969-6899)
- Trisha Multhaupt‐Buell
- Meike Kasten (ORCID: https://orcid.org/0000-0003-1910-6035)
- Aparna Wagle Shukla (ORCID: https://orcid.org/0000-0002-9757-9973)
- Gamze Kilic‐Berkmen (ORCID: https://orcid.org/0000-0002-9156-5706)
- Christoph Kamm (ORCID: https://orcid.org/0000-0002-7618-2336)
- Mark S. LeDoux (ORCID: https://orcid.org/0000-0002-1748-3390)
- Eva‐Juliane Vollstedt (ORCID: https://orcid.org/0000-0002-6898-9201)
- Barbara Schormair (ORCID: https://orcid.org/0000-0003-0942-5243)
- Sarah E. Pirio Richardson
- Stephen G. Reich (ORCID: https://orcid.org/0000-0002-9813-4562)
- Lisa‐Marie Nuxoll (ORCID: https://orcid.org/0000-0003-0167-6638)
- Andre Franke
- Kirsten E. Zeuner
- A. Ferbert
- Deborah Raymond (ORCID: https://orcid.org/0009-0001-9039-7536)
Institutions
- University of Maryland, Baltimore (US)
- Massachusetts Eye and Ear Infirmary (US)
- Mount Sinai Beth Israel (US)
- Beth Israel Deaconess Medical Center (US)
- Harvard University (US)
- Innsbruck Medical University (AT)
- Johns Hopkins University (US)
- Emory University (US)
- Universität Hamburg (DE)
- University of New Mexico (US)
- Baylor College of Medicine (US)
- Universität Innsbruck (AT)
- Washington University in St. Louis (US)
- Charles University (CZ)
- Johns Hopkins Medicine (US)
- TUM Klinikum (DE)
- Helmholtz Zentrum München (DE)
- Christian-Albrechts-Universität zu Kiel (DE)
- University of Florida (US)
- Medizinische Hochschule Hannover (DE)
- Massachusetts General Hospital (US)
- Hanover University of Music Drama and Media (DE)
- University Medical Center Hamburg-Eppendorf (DE)
- Munich Cluster for Systems Neurology (DE)
- Essen University Hospital (DE)
- Universitätsklinikum Würzburg (DE)
- Texas Neurology (US)
- Hertie Institute for Clinical Brain Research (DE)
- Klinikum Kassel (DE)
- General University Hospital in Prague (CZ)
- University of Rostock (DE)
- Rush University (US)
- University of Duisburg-Essen (DE)
- Technical University of Munich (DE)
- Charité - Universitätsmedizin Berlin (DE)
- University of Tübingen (DE)
- University of Cincinnati Medical Center (US)
- University of Colorado Denver (US)
- University of Lübeck (DE)
- University of Memphis (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Movement Disorders
- Published
- 2024-09-17
- DOI
- https://doi.org/10.1002/mds.29968
- Citations
- 3
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.11
Funders
- U.S. Department of Defense
- Michael J. Fox Foundation for Parkinson's Research
- Alzheimer's Association
- National Organization for Rare Disorders
- Parkinson's Disease Foundation
- Dystonia Medical Research Foundation
- Biogen
- Teva Pharmaceutical Industries
- Univerzita Karlova v Praze
- Cure Alzheimer's Fund
- Benign Essential Blepharospasm Research Foundation
- CurePSP
- Tourette Association of America
- Jazz Pharmaceuticals
- Parkinson's Foundation
- Acorda Therapeutics
- Sage Therapeutics
- Australian Government
- Aligning Science Across Parkinson’s
- Otsuka America
- Centene Corporation
- University of Cambridge
- European Commission
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Eisai
- Technische Universität München
- H. Lundbeck A/S
- Ipsen
- National Institutes of Health
- Allergan
- National Center for Advancing Translational Sciences
- UCB Pharma
- Dystonia Coalition