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Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia
Edoardo Monfrini1,2, Laura Avanzino3,4, Giovanni Palermo5
1Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Movement Disorders Clinical Practice
|January 31, 2024
Summary
VPS16 gene mutations cause inherited dystonia with varied symptoms. Deep brain stimulation shows promise for dystonia but not all hyperkinetic movements in these rare genetic disorders.
Area of Science:
- Genetics
- Neurology
- Movement Disorders
Background:
- VPS16 pathogenic variants are linked to inherited dystonia.
- Dominant VPS16-related disease typically presents with early-onset isolated dystonia affecting oromandibular, bulbar, cervical, and upper limb regions.
Observation:
- Six patients with VPS16 mutations exhibited diverse phenotypes beyond dystonia, including myoclonus, choreoathetosis, pharyngospasm, and freezing of gait.
- Five novel pathogenic/likely pathogenic variants in VPS16 were identified.
Findings:
- Bilateral Globus Pallidus Internus Deep Brain Stimulation (GPi-DBS) in three patients significantly improved dystonia.
- GPi-DBS had a limited effect on other hyperkinetic movement disorders observed in these patients.
Implications:
- This expands the known genetic and clinical spectrum of VPS16-related disorders.
- Movement disorder specialists should consider VPS16 gene mutations in patients with atypical dystonia presentations.
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