Wiley, Movement Disorders Clinical Practice, 1(11), p. 87-93, 2023
DOI: 10.1002/mdc3.13927
Full text: Unavailable
AbstractBackgroundVPS16 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.CasesWe 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.ConclusionsThis 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.