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

Research output: Contribution to journalDebate/Note/Editorial

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Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation. / Eggink, Hendriekje; van Egmond, Martje E.; Verschuuren-Bemelmans, Corien C.; Schönherr, Marleen C.; de Koning, Tom J.; Oterdoom, D. L.Marinus; van Dijk, J. Marc C.; Tijssen, Marina A.J.

In: Movement Disorders, Vol. 32, No. 1, 01.01.2017, p. 162-165.

Research output: Contribution to journalDebate/Note/Editorial

Harvard

Eggink, H, van Egmond, ME, Verschuuren-Bemelmans, CC, Schönherr, MC, de Koning, TJ, Oterdoom, DLM, van Dijk, JMC & Tijssen, MAJ 2017, 'Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation', Movement Disorders, vol. 32, no. 1, pp. 162-165. https://doi.org/10.1002/mds.26842

APA

Eggink, H., van Egmond, M. E., Verschuuren-Bemelmans, C. C., Schönherr, M. C., de Koning, T. J., Oterdoom, D. L. M., van Dijk, J. M. C., & Tijssen, M. A. J. (2017). Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation. Movement Disorders, 32(1), 162-165. https://doi.org/10.1002/mds.26842

CBE

Eggink H, van Egmond ME, Verschuuren-Bemelmans CC, Schönherr MC, de Koning TJ, Oterdoom DLM, van Dijk JMC, Tijssen MAJ. 2017. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation. Movement Disorders. 32(1):162-165. https://doi.org/10.1002/mds.26842

MLA

Vancouver

Eggink H, van Egmond ME, Verschuuren-Bemelmans CC, Schönherr MC, de Koning TJ, Oterdoom DLM et al. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation. Movement Disorders. 2017 Jan 1;32(1):162-165. https://doi.org/10.1002/mds.26842

Author

Eggink, Hendriekje ; van Egmond, Martje E. ; Verschuuren-Bemelmans, Corien C. ; Schönherr, Marleen C. ; de Koning, Tom J. ; Oterdoom, D. L.Marinus ; van Dijk, J. Marc C. ; Tijssen, Marina A.J. / Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation. In: Movement Disorders. 2017 ; Vol. 32, No. 1. pp. 162-165.

RIS

TY - JOUR

T1 - Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

AU - Eggink, Hendriekje

AU - van Egmond, Martje E.

AU - Verschuuren-Bemelmans, Corien C.

AU - Schönherr, Marleen C.

AU - de Koning, Tom J.

AU - Oterdoom, D. L.Marinus

AU - van Dijk, J. Marc C.

AU - Tijssen, Marina A.J.

PY - 2017/1/1

Y1 - 2017/1/1

N2 - 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.

AB - 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.

KW - Baraitser-Winter syndrome

KW - beta-actin

KW - deep brain stimulation

KW - dystonia

KW - dystonia-deafness syndrome

UR - http://www.scopus.com/inward/record.url?scp=84999836854&partnerID=8YFLogxK

U2 - 10.1002/mds.26842

DO - 10.1002/mds.26842

M3 - Debate/Note/Editorial

C2 - 27862284

AN - SCOPUS:84999836854

VL - 32

SP - 162

EP - 165

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 1

ER -