Dystonia-deafness syndrome caused by a ß-actin gene mutation and response to deep brain stimulation.
Mov Disord
; 32(1): 162-165, 2017 01.
Article
em En
| MEDLINE
| ID: mdl-27862284
ABSTRACT
INTRODUCTION:
Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients.OBJECTIVES:
To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation.METHODS:
We report on disease course, genetic testing, and management of 2 patients, mother and daughter, presenting with dystonia-deafness syndrome.RESULTS:
After exclusion of known dystonia-deafness syndrome causes, whole-exome sequencing revealed a beta-actin gene mutation (p.Arg183Trp) in both patients. Although beta-actin gene mutations are generally associated with developmental Baraitser-Winter syndrome, dystonia-deafness syndrome has been reported once in identical twin brothers. Bilateral GPi-DBS led to a significant decrease of dystonia and regain of independency in our patients.CONCLUSION:
The p.Arg183Trp mutation in the beta-actin gene is associated with the clinical presentation of dystonia-deafness syndrome, even with only minimal or no developmental abnormalities of Baraitser-Winter syndrome. GPi-DBS should be considered to ameliorate the invalidating dystonia in these patients. © 2016 International Parkinson and Movement Disorder Society.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Óptica
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Actinas
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Estimulação Encefálica Profunda
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Distonia
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Surdocegueira
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Deficiência Intelectual
Limite:
Adult
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Female
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Humans
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Middle aged
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article