Expanding the Genetic and Phenotypic Spectrum of <scp>DYT</scp> ‐ <scp> <i>VPS16</i> </scp> : The Importance of Splice‐Site Variants
We expand the phenotypic and mutational spectrum of DYT-VPS16, emphasize the utility of RNA-Seq in clarifying VPS16 variant pathogenicity, and advocate for timely DBS as a promising therapeutic option for DYT-VPS16 patients. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Anita Nikoncuk
- Katja Lohmann (ORCID: https://orcid.org/0000-0002-5121-1460)
- András Salamon (ORCID: https://orcid.org/0000-0002-9946-8230)
- Suliman Khan (ORCID: https://orcid.org/0000-0003-4954-0748)
- Aleš Maver (ORCID: https://orcid.org/0000-0002-9826-0534)
- Jeanette Prada‐Arismendy (ORCID: https://orcid.org/0000-0002-4779-1941)
- Ana Westenberger (ORCID: https://orcid.org/0000-0001-8062-6959)
- Ruslan Al‐Ali (ORCID: https://orcid.org/0000-0002-0189-3774)
- Edgard Verdura (ORCID: https://orcid.org/0000-0003-3856-2060)
- Kornélia Tripolszki (ORCID: https://orcid.org/0000-0002-7734-1992)
- Raphael Doyle Maia
- Belén Pérez‐Dueñas (ORCID: https://orcid.org/0000-0002-4979-2788)
- Deniz Karadurmus (ORCID: https://orcid.org/0000-0001-8663-6357)
- Goran Čuturilo (ORCID: https://orcid.org/0000-0003-2753-3096)
- Liesbeth De Waele (ORCID: https://orcid.org/0000-0001-7126-575X)
- Tahsin Stefan Barakat (ORCID: https://orcid.org/0000-0003-1231-1562)
- Rebecca Herzog (ORCID: https://orcid.org/0000-0002-5906-5947)
- Aslı Subaşıoğlu (ORCID: https://orcid.org/0000-0001-9011-6290)
- Vera Tadić
- Gabriela Ziegler (ORCID: https://orcid.org/0000-0002-8004-2352)
- Péter Klivènyi (ORCID: https://orcid.org/0000-0002-5389-3266)
- Anna Marcé‐Grau (ORCID: https://orcid.org/0000-0001-5762-4023)
- Leslie E. Sanderson (ORCID: https://orcid.org/0000-0002-8026-406X)
- Lígia S. Almeida (ORCID: https://orcid.org/0000-0003-1370-961X)
- Mandy Radefeldt
- Mateja Vinkšel (ORCID: https://orcid.org/0000-0002-4158-4407)
- Sebastian Loens (ORCID: https://orcid.org/0000-0003-3067-5239)
- A Sanguinetti
- Jonathan De Winter (ORCID: https://orcid.org/0000-0002-0166-6758)
- Peter O. Bauer (ORCID: https://orcid.org/0000-0003-2811-1354)
- Lorena Tschopp (ORCID: https://orcid.org/0000-0003-0838-8188)
- Aida M. Bertoli‐Avella (ORCID: https://orcid.org/0000-0001-9544-1877)
- Ana Cazurro‐Gutiérrez (ORCID: https://orcid.org/0000-0002-2922-605X)
- Tainá Regina Damaceno Silveira
- Barbara Leube
- Mariana Ferreira (ORCID: https://orcid.org/0000-0003-3003-2970)
- Alice Monticelli
- Jonathan Baets
- Volkan Baltacı
Institutions
- Universitat Autònoma de Barcelona (ES)
- University of Antwerp (BE)
- University of Namur (BE)
- University of Ljubljana (SI)
- University of Szeged (HU)
- Izmir Kâtip Çelebi University (TR)
- Ljubljana University Medical Centre (SI)
- Erasmus MC (NL)
- University of Belgrade (RS)
- Düsseldorf University Hospital (DE)
- Institute of Pathology and Genetics (BE)
- Antwerp University Hospital (BE)
- Vall d'Hebron Institut de Recerca (ES)
- İlkogen (Turkey) (TR)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- University Hospital Schleswig-Holstein (DE)
- Centogene (Germany) (DE)
- Instituto Tecnológico Metropolitano (CO)
- University Children's Hospital, Belgrade (RS)
- Hospital Británico de Buenos Aires (AR)
- MTA-SZTE Research Group on Artificial Intelligence (HU)
- Heinrich Heine University Düsseldorf (DE)
- Universidade Federal do Espírito Santo (BR)
- Hungarian Academy of Sciences (HU)
- University of Lübeck (DE)
- KU Leuven (BE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-11-07
- DOI
- https://doi.org/10.1002/mds.70089
- Citations
- 2
- Primary Topic
- Neurological disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 2.78
Funders
- European Commission
- ZonMw
- Fonds Wetenschappelijk Onderzoek
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- Vlaamse regering