Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Edoardo MonfriniLaura AvanzinoGiovanni PalermoGiulia BonatoGloria BresciaRoberto CeravoloGiovanna CantarellaPaola MandichHolger ProkischKarin Storm Van's GravesandeGiulia StracciaAntonio EliaChiara RealeCeleste PanteghiniGiovanna ZorziRoberto EleopraRoberto ErroMiryam CarecchioBarbara GaravagliaMichael ZechLuigi Michele RomitoAlessio di FonzoPublished in: Movement disorders clinical practice (2023)
This case collection expands the genetic and clinical spectrum of VPS16-related disease, prompting movement disorder specialists to suspect mutations of this gene not only in patients with isolated dystonia.