Movement disorders clinical practice · 2023
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Monfrini Edoardo, Avanzino Laura, Palermo Giovanni, Bonato Giulia, Brescia Gloria, Ceravolo Roberto, Cantarella Giovanna, Mandich Paola, Prokisch Holger, Storm Van's Gravesande Karin, Straccia Giulia, Elia Antonio, Reale Chiara, Panteghini Celeste, Zorzi Giovanna, Eleopra Roberto, Erro Roberto, Carecchio Miryam, Garavaglia Barbara, Zech Michael, Romito Luigi, Di Fonzo Alessio
Аннотация
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. Response to bilateral Globus Pallidus Internus Deep Brain Stimulation (GPi-DBS) is reported in three of them, associated with significant improvement of dystonia but only minor effect on other hyperkinetic movements. Moreover, five novel pathogenic/likely pathogenic variants are described.
CONCLUSIONS: 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.
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. Response to bilateral Globus Pallidus Internus Deep Brain Stimulation (GPi-DBS) is reported in three of them, associated with significant improvement of dystonia but only minor effect on other hyperkinetic movements. Moreover, five novel pathogenic/likely pathogenic variants are described.
CONCLUSIONS: 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.