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Monfrini, E.* ; Avanzino, L.* ; Palermo, G.* ; Bonato, G.* ; Brescia, G.* ; Ceravolo, R.* ; Cantarella, G.* ; Mandich, P.* ; Prokisch, H. ; Storm van's Gravesande, K.* ; Straccia, G.* ; Elia, A.E.* ; Reale, C.* ; Panteghini, C.* ; Zorzi, G.* ; Eleopra, R.* ; Erro, R.* ; Carecchio, M.* ; Garavaglia, B.* ; Zech, M. ; Romito, L.* ; Di Fonzo, A.*

Dominant VPS16 pathogenic variants: Not only isolated dystonia.

Mov. Disord. Clin. Pract. 11, 87-93 (2023)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
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
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 2330-1619
e-ISSN 2330-1619
Zeitschrift Movement disorders clinical practice
Quellenangaben Band: 11, Heft: 1, Seiten: 87-93 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort New York, NY
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503292-001
G-503200-001
Förderungen German Federal Ministry of Education and Research
DOI 10.1002/mdc3.13927
WOS ID 001124648900001
Scopus ID 85179355414
PubMed ID 38291845
Erfassungsdatum 2023-12-18
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