Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation
(2017) In Movement Disorders 32(1). p.162-165- 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,... (More)
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.
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- author
- Eggink, Hendriekje ; van Egmond, Martje E. ; Verschuuren-Bemelmans, Corien C. ; Schönherr, Marleen C. ; de Koning, Tom J. LU ; Oterdoom, D. L.Marinus ; van Dijk, J. Marc C. and Tijssen, Marina A.J.
- publishing date
- 2017-01-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Baraitser-Winter syndrome, beta-actin, deep brain stimulation, dystonia, dystonia-deafness syndrome
- in
- Movement Disorders
- volume
- 32
- issue
- 1
- pages
- 4 pages
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- scopus:84999836854
- pmid:27862284
- ISSN
- 0885-3185
- DOI
- 10.1002/mds.26842
- language
- English
- LU publication?
- no
- id
- e0fc107a-c399-409f-9f66-4177bc0de0f0
- date added to LUP
- 2020-02-26 09:52:31
- date last changed
- 2024-05-29 10:13:36
@misc{e0fc107a-c399-409f-9f66-4177bc0de0f0,
abstract = {{<p>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.</p>}},
author = {{Eggink, Hendriekje and van Egmond, Martje E. and Verschuuren-Bemelmans, Corien C. and Schönherr, Marleen C. and de Koning, Tom J. and Oterdoom, D. L.Marinus and van Dijk, J. Marc C. and Tijssen, Marina A.J.}},
issn = {{0885-3185}},
keywords = {{Baraitser-Winter syndrome; beta-actin; deep brain stimulation; dystonia; dystonia-deafness syndrome}},
language = {{eng}},
month = {{01}},
number = {{1}},
pages = {{162--165}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Movement Disorders}},
title = {{Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation}},
url = {{http://dx.doi.org/10.1002/mds.26842}},
doi = {{10.1002/mds.26842}},
volume = {{32}},
year = {{2017}},
}