Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Mov Disord Clin Pract
; 11(1): 87-93, 2024 Jan.
Article
in En
| MEDLINE
| ID: mdl-38291845
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Parkinson Disease
/
Dystonic Disorders
/
Gait Disorders, Neurologic
/
Deep Brain Stimulation
/
Dystonia
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
En
Journal:
Mov Disord Clin Pract
Year:
2024
Type:
Article
Affiliation country:
Italy