TY - JOUR
T1 - Dystonia-Deafness Syndrome Caused by a beta-Actin Gene Mutation and Response to Deep Brain Stimulation
AU - Eggink, Hendriekje
AU - van Egmond, Martje E.
AU - Verschuuren - Bemelmans, Corien C.
AU - Schonherr, Marleen C.
AU - de Koning, Tom J.
AU - Oterdoom, D. L. Marinus
AU - van Dijk, J. Marc C.
AU - Tijssen, Marina A. J.
N1 - © 2016 International Parkinson and Movement Disorder Society.
PY - 2017/1
Y1 - 2017/1
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. (C) 2016 International Parkinson and Movement Disorder Society.
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. (C) 2016 International Parkinson and Movement Disorder Society.
KW - dystonia-deafness syndrome
KW - beta-actin
KW - deep brain stimulation
KW - dystonia
KW - Baraitser-Winter syndrome
U2 - 10.1002/mds.26842
DO - 10.1002/mds.26842
M3 - Article
C2 - 27862284
SN - 0885-3185
VL - 32
SP - 162
EP - 165
JO - Movement Disorders
JF - Movement Disorders
IS - 1
ER -