Edoardo Monfrini, Laura Avanzino, Giovanni Palermo, Giulia Bonato, Gloria Brescia, Roberto Ceravolo, Giovanna Cantarella, Paola Mandich, Holger Prokisch, Karin Storm Van's Gravesande, 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
BACKGROUND: VPS16 pathogenic variants have been recently associated with inherited dystonia. Most patients affected by dominant VPS16-related disease display early-onset isolated dystonia with prominent oromandibular, bulbar, cervical, and upper limb involvement, followed by slowly progressive generalization. CASES: We describe six newly reported dystonic patients carrying VPS16 mutations displaying unusual phenotypic features in addition to dystonia, such as myoclonus, choreoathetosis, pharyngospasm and freezing of gait...
January 2024: Movement Disorders Clinical Practice