# Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome **Authors:** Arnaud Storck, Marie Thérèse Abiwarde, Gaelle Hardy, Anne-Sophie Lebre, Sophie Scheidecker, Maria Cristina Antal, Mathieu Anheim, Thomas Wirth PMC · DOI: 10.1016/j.prdoa.2025.100419 · Clinical Parkinsonism & Related Disorders · 2025-12-31 ## TL;DR This paper confirms that mutations in the VPS11 gene can cause a complex dystonic syndrome, based on a second reported case. ## Contribution The study provides the first replication of adult-onset dystonia linked to biallelic VPS11 variants. ## Key findings - VPS11 mutations are linked to complex dystonic syndrome in adults. - A second case confirms the association between biallelic VPS11 variants and dystonia. - This expands the known clinical spectrum of VPS11-related disorders. ## Abstract •VPS11 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 VPS11. VPS11 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 VPS11. ## Linked entities - **Genes:** VPS11 (VPS11 core subunit of CORVET and HOPS complexes) [NCBI Gene 55823] - **Diseases:** generalized dystonia (MONDO:0000476) ## Full-text entities - **Genes:** VPS11 (VPS11 core subunit of CORVET and HOPS complexes) [NCBI Gene 55823] {aka DYT32, END1, HLD12, HLD12; DYT32, PEP5, RNF108} - **Diseases:** hypomyelinated leukodystrophy (MESH:C536319), complex dystonic syndrome (MESH:D004421) ## Full text _Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12808586/full.md ## Figures 1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12808586/full.md ## References 5 references — full list in the complete paper: https://tomesphere.com/paper/PMC12808586/full.md --- Source: https://tomesphere.com/paper/PMC12808586