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Dominant VPS16 pathogenic variants: Not only isolated dystonia.
Mov. Disord. Clin. Pract. 11, 87-93 (2023)
Verlagsversion
DOI
PMC
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.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Choreoathetosis ; Freezing ; Gpi-dbs ; Hopsands ; Myoclonus ; Pharyngeal Spasm
ISSN (print) / ISBN
2330-1619
e-ISSN
2330-1619
Zeitschrift
Movement disorders clinical practice
Quellenangaben
Band: 11,
Heft: 1,
Seiten: 87-93
Verlag
Wiley
Verlagsort
New York, NY
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
German Federal Ministry of Education and Research