Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

Forskningsoutput: TidskriftsbidragDebate/Note/Editorial


title = "Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation",
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.",
keywords = "Baraitser-Winter syndrome, beta-actin, deep brain stimulation, dystonia, dystonia-deafness syndrome",
author = "Hendriekje Eggink and {van Egmond}, {Martje E.} and Verschuuren-Bemelmans, {Corien C.} and Sch{\"o}nherr, {Marleen C.} and {de Koning}, {Tom J.} and Oterdoom, {D. L.Marinus} and {van Dijk}, {J. Marc C.} and Tijssen, {Marina A.J.}",
year = "2017",
month = jan,
day = "1",
doi = "10.1002/mds.26842",
language = "English",
volume = "32",
pages = "162--165",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "John Wiley and Sons",
number = "1",