Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Mov Disord Clin Pract
; 11(1): 87-93, 2024 Jan.
Article
em 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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Distúrbios Distônicos
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Transtornos Neurológicos da Marcha
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Estimulação Encefálica Profunda
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Distonia
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Mov Disord Clin Pract
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Mov. disord. clin. pract
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Movement disorders clinical practice
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Itália