Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

• DOI: 10.1002/mdc3.13927
• Publication Date: 2023-11-15T21:25:24Z
• Authors: Edoardo Monfrini; Laura Avanzino; Giovanni Palermo; Giulia Bonato; Gloria Brescia; Roberto Ceravolo; Giovanna Cantarella; Paola Mandich; Holger Prokisch; Karin Storm van's...; Giulia Straccia; Antonio Elia; Chiara Reale; Celeste Panteghini; Giovanna Zorzi; Roberto Eleopra; Roberto Erro; Miryam Carecchio; Barbara Garavaglia; Michael Zech; Luigi Romito; Alessio Di Fonzo
• Keywords: Choreoathetosis; Movement Disorders; Cervical dystonia

Abstract Background VPS16 pathogenic variants have been recently associated with inherited dystonia. Most patients affected by dominant VPS16‐related disease display early‐onset isolated dystonia prominent oromandibular, bulbar, cervical, and upper limb involvement, followed slowly progressive generalization. Cases We describe six newly reported dystonic carrying mutations displaying unusual phenotypic features in addition to dystonia, such as myoclonus, choreoathetosis, pharyngospasm freezing of gait. Response bilateral Globus Pallidus Internus Deep Brain Stimulation (GPi‐DBS) is three them, significant improvement but only minor effect on other hyperkinetic movements. Moreover, five novel pathogenic/likely are described. Conclusions This case collection expands the genetic clinical spectrum ‐related disease, prompting movement disorder specialists suspect this gene not