Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome
•<i>VPS11</i> is associated with hypomyelinated leukodystrophy affecting children.•A single case of adult-onset generalized dystonia was reported.•We provide the first replication by describing a second case of complex dystonia related to biallelic variants in <i>VPS11</i>.
Authors
- Maria Cristina Antal (ORCID: https://orcid.org/0000-0002-8331-5520)
- Sophie Scheidecker
- Arnaud Storck
- Marie Thérèse Abiwarde
- Gaelle Hardy
- Anne-Sophie Lebre Pharm
- Thomas Wirth
- Mathieu Anheim
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Institut de génétique et de biologie moléculaire et cellulaire (FR)
- Centre Hospitalier Universitaire de Reims (FR)
- Institut de Psychiatrie et Neurosciences de Paris (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Institut de Chimie Moléculaire de Grenoble (FR)
- Université de Strasbourg (FR)
- Université de Reims Champagne-Ardenne (FR)
Publication Details
- Journal
- Clinical Parkinsonism & Related Disorders
- Published
- 2025-12-31
- DOI
- https://doi.org/10.1016/j.prdoa.2025.100419
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00