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Case Reports
. 2024 Jan;11(1):87-93.
doi: 10.1002/mdc3.13927. Epub 2023 Dec 12.

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

Edoardo Monfrini  1   2 , Laura Avanzino  3   4 , Giovanni Palermo  5 , Giulia Bonato  6 , Gloria Brescia  1   7 , Roberto Ceravolo  5 , Giovanna Cantarella  8   9 , Paola Mandich  4   10 , Holger Prokisch  11   12 , Karin Storm Van's Gravesande  13   14 , Giulia Straccia  15 , Antonio Elia  15 , Chiara Reale  16 , Celeste Panteghini  16 , Giovanna Zorzi  17 , Roberto Eleopra  15 , Roberto Erro  18 , Miryam Carecchio  5 , Barbara Garavaglia  16 , Michael Zech  11   12   19 , Luigi Romito  15 , Alessio Di Fonzo  2
Affiliations
Case Reports

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

Edoardo Monfrini et al. Mov Disord Clin Pract. 2024 Jan.

Abstract

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.

Keywords: GPi-DBS; HOPSANDs; choreoathetosis; freezing; myoclonus; pharyngeal spasm.

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Figures

Figure 1
Figure 1
Pedigree of the families (A–D), and mutational status of the available subjects.
See this image and copyright information in PMC

References

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