Hendriekje Eggink1, Martje E van Egmond1, Corien C Verschuuren-Bemelmans2, Marleen C Schönherr3, Tom J de Koning2, D L Marinus Oterdoom4, J Marc C van Dijk4, Marina A J Tijssen1. 1. Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. 2. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. 3. Department of Rehabilitation, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. 4. Department of Neurosurgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
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.
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.
Authors: Michael Zech; Robert Jech; Matias Wagner; Tobias Mantel; Sylvia Boesch; Michael Nocker; Angela Jochim; Riccardo Berutti; Petra Havránková; Anna Fečíková; David Kemlink; Jan Roth; Tim M Strom; Werner Poewe; Evžen Růžička; Bernhard Haslinger; Juliane Winkelmann Journal: Neurogenetics Date: 2017-08-28 Impact factor: 2.660
Authors: Sharissa L Latham; Nadja Ehmke; Patrick Y A Reinke; Manuel H Taft; Dorothee Eicke; Theresia Reindl; Werner Stenzel; Michael J Lyons; Michael J Friez; Jennifer A Lee; Ramona Hecker; Michael C Frühwald; Kerstin Becker; Teresa M Neuhann; Denise Horn; Evelin Schrock; Indra Niehaus; Katharina Sarnow; Konrad Grützmann; Luzie Gawehn; Barbara Klink; Andreas Rump; Christine Chaponnier; Constanca Figueiredo; Ralf Knöfler; Dietmar J Manstein; Nataliya Di Donato Journal: Nat Commun Date: 2018-10-12 Impact factor: 14.919