Copy Number Variation and Haplotype Analysis of <scp>17q21.31</scp> Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells
The copy number of γ is associated with the risk of PSP after adjusting for H1/H2, indicating that the complex structure at 17q21.31 is an important consideration when evaluating the genetic risk of PSP. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Wan‐Ping Lee (ORCID: https://orcid.org/0000-0002-5305-1181)
- Jeffrey S. Friedman
- Laura Molina‐Porcel (ORCID: https://orcid.org/0000-0003-4068-8578)
- Tina Meller (ORCID: https://orcid.org/0000-0002-0239-6585)
- John Cornelis Van Swieten (ORCID: https://orcid.org/0000-0001-6278-6844)
- Irene Litvan (ORCID: https://orcid.org/0000-0002-3485-3445)
- Elise G.P. Dopper
- Clifton L. Dalgard (ORCID: https://orcid.org/0000-0003-2025-8239)
- Dennis W. Dickson (ORCID: https://orcid.org/0000-0001-7189-7917)
- Timothy S. Chang (ORCID: https://orcid.org/0000-0002-9225-9874)
- Alex Rajput (ORCID: https://orcid.org/0000-0001-9656-318X)
- Jung‐Ying Tzeng (ORCID: https://orcid.org/0000-0002-5505-1775)
- Daniel H. Geschwind (ORCID: https://orcid.org/0000-0003-2896-3450)
- Franziska Hopfner (ORCID: https://orcid.org/0000-0001-6524-0281)
- Adam L. Boxer (ORCID: https://orcid.org/0000-0002-1215-5064)
- Albert Tucci (ORCID: https://orcid.org/0000-0001-5703-7208)
- Charles L. White (ORCID: https://orcid.org/0000-0002-3870-2804)
- Laura Donker Kaat (ORCID: https://orcid.org/0009-0007-2436-0931)
- Peter Paul De Deyn (ORCID: https://orcid.org/0000-0002-2228-2964)
- Kurt Farrell (ORCID: https://orcid.org/0000-0001-6955-7278)
- Alexandra Dürr (ORCID: https://orcid.org/0000-0002-8921-7104)
- Pau Pástor (ORCID: https://orcid.org/0000-0002-7493-8777)
- Alexis Brice (ORCID: https://orcid.org/0000-0002-0941-3990)
- Vishakha Patil
- Claire Troakes (ORCID: https://orcid.org/0000-0002-1790-7376)
- Yuk Yee Leung (ORCID: https://orcid.org/0000-0002-3047-5440)
- Thomas Arzberger (ORCID: https://orcid.org/0000-0002-6222-171X)
- Li‐San Wang (ORCID: https://orcid.org/0000-0002-3684-0031)
- Vivianna M. Van Deerlin (ORCID: https://orcid.org/0000-0002-7400-9097)
- Gesine Respondek (ORCID: https://orcid.org/0000-0002-6851-6164)
- Bruce L. Miller (ORCID: https://orcid.org/0000-0002-2152-4220)
- Bernardino Ghetti (ORCID: https://orcid.org/0000-0002-1842-8019)
- Rosa Rademakers (ORCID: https://orcid.org/0000-0002-4049-0863)
- Geidy E. Serrano (ORCID: https://orcid.org/0000-0002-9527-2011)
- Beth A. Dombroski (ORCID: https://orcid.org/0000-0002-5334-1306)
- Nathalie Le Bastard (ORCID: https://orcid.org/0000-0002-7981-2866)
- Catriona McLean (ORCID: https://orcid.org/0000-0002-0302-5727)
- Adam C. Naj (ORCID: https://orcid.org/0000-0002-9621-2942)
- Po‐Liang Cheng (ORCID: https://orcid.org/0009-0007-0046-0313)
- Sigrun Roeber
- Wolfgang H. Oertel (ORCID: https://orcid.org/0000-0002-7582-8166)
- Edward B. Lee (ORCID: https://orcid.org/0000-0002-4589-1180)
- María Stamelou (ORCID: https://orcid.org/0000-0003-1668-9925)
- Giovanni Coppola (ORCID: https://orcid.org/0000-0003-2105-1061)
- Marla Gearing (ORCID: https://orcid.org/0000-0002-1959-7412)
- Kathy L. Newell (ORCID: https://orcid.org/0000-0002-1648-7357)
- John F. Crary (ORCID: https://orcid.org/0000-0002-0556-293X)
- Chong Li (ORCID: https://orcid.org/0000-0003-1949-4074)
- Günter U. Höglinger (ORCID: https://orcid.org/0000-0001-7587-6187)
- Douglas R Galasko (ORCID: https://orcid.org/0000-0001-6195-3241)
- Thomas G. Beach (ORCID: https://orcid.org/0000-0003-3296-6128)
- Owen A. Ross (ORCID: https://orcid.org/0000-0003-4813-756X)
- Yaqin Si (ORCID: https://orcid.org/0000-0002-9968-9754)
- Yaroslau Compta (ORCID: https://orcid.org/0000-0001-6443-0104)
- Huw R. Morris (ORCID: https://orcid.org/0000-0002-5473-3774)
- Leopoldo Valiente‐Banuet
- Lili‐Naz Hazrati (ORCID: https://orcid.org/0000-0003-2715-1485)
- Alison Goate (ORCID: https://orcid.org/0000-0002-0576-2472)
- Gerard D. Schellenberg (ORCID: https://orcid.org/0000-0003-1115-2475)
- Hui Wang (ORCID: https://orcid.org/0000-0003-4043-5060)
- Ulrich Müller (ORCID: https://orcid.org/0000-0003-2412-9071)
- Rohan de Silva (ORCID: https://orcid.org/0000-0002-5052-5775)
- Isabelle Le Ber
- Alberto Rábano‐Gutierrez
- Willian W. Seeley
Institutions
- Centre National de la Recherche Scientifique (FR)
- Allen Institute for Brain Science (US)
- University Medical Center Groningen (NL)
- North Carolina State University (US)
- Uniformed Services University of the Health Sciences (US)
- University of Antwerp (BE)
- Emory University (US)
- Inserm (FR)
- Philipps University of Marburg (DE)
- University of California, Los Angeles (US)
- University of California, San Francisco (US)
- King's College London (GB)
- Justus-Liebig-Universität Gießen (DE)
- European University Cyprus (CY)
- Florey Institute of Neuroscience and Mental Health (AU)
- German Center for Neurodegenerative Diseases (DE)
- Jacksonville College (US)
- University of Saskatchewan (CA)
- University of Cyprus (CY)
- University of California San Diego (US)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- University Memory and Aging Center (US)
- Munich Cluster for Systems Neurology (DE)
- Hospital Clínic de Barcelona (ES)
- Reial Acadèmia de Ciències i Arts de Barcelona (ES)
- Hygeia Hospital (GR)
- VIB-UAntwerp Center for Molecular Neurology (BE)
- Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (ES)
- Banner Sun Health Research Institute (US)
- Mayo Clinic in Florida (US)
- National Hospital for Neurology and Neurosurgery (GB)
- Precision Research (United States) (US)
- Banc de Sang i Teixits (ES)
- Institut du Cerveau (FR)
- Hospital Universitari Germans Trias i Pujol (ES)
- Fundacion Centro De Investigacion De Enfermedades Neurologicas (ES)
- Fundació Clínic per a la Recerca Biomèdica (ES)
- Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES)
- Hersenstichting (NL)
- Indiana University School of Medicine
- University College London (GB)
- McGill University (CA)
- Indiana University – Purdue University Indianapolis (US)
- Fujirebio (Belgium) (BE)
- Universidad Autónoma de Madrid (ES)
- Universitat de Barcelona (ES)
- University of Pennsylvania (US)
- Ludwig-Maximilians-Universität München (DE)
- Temple University (US)
- The University of Texas Southwestern Medical Center (US)
- Erasmus University Rotterdam (NL)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-03-08
- DOI
- https://doi.org/10.1002/mds.30150
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Larry L. Hillblom Foundation
- University of Pennsylvania
- CurePSP
- Justus Liebig Universität Gießen
- Rainwater Charitable Foundation
- King's College London
- Deutsches Zentrum für Neurodegenerative Erkrankungen
- Universitat de Barcelona
- Medical Research Council