Article
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2026
Westenberger Ana, Verdura Edgard, Radefeldt Mandy, Sanderson Leslie E, Tripolszki Kornelia, Marcé-Grau Anna, Cazurro-Gutiérrez Ana, Nikoncuk Anita, Herzog Rebecca, Al-Ali Ruslan, Ferreira Mariana, Almeida Ligia S, Silveira Tainá Regina Damaceno, Khan Suliman, Maia Raphael Doyle, Klivényi Péter, Salamon András, Baltaci Volkan, Subasioglu Asli, Prada-Arismendy Jeanette, Čuturilo Goran, Loens Sebastian, Tadic Vera, Maystadt Isabelle, Karadurmus Deniz, Leube Barbara, De Winter Jonathan, Monticelli Alice, De Waele Liesbeth, Baets Jonathan, Vinkšel Mateja, Maver Aleš, Tschopp Lorena, Ziegler Gabriela, Sanguinetti Ana, Lohmann Katja, Barakat Tahsin Stefan, Bauer Peter, Perez-Dueñas Belén, Bertoli-Avella Aida M
Abstract excerpt
BACKGROUND: DYT-VPS16, an early-onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. METHODS: We explored the clinical and genotypic spectrum of DYT-VPS16 by investigating early-onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene-matching initiatives. Patient samples were analyzed by exome/Sanger and RNA/cDNA...
Topics
- Humans
- Male
- Female
- Phenotype
- Child
- Adolescent