title: Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.
abstract: 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.
  
  
  
  To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation.
  
  
  
  We report on disease course, genetic testing, and management of 2 patients, mother and daughter, presenting with dystonia-deafness syndrome.
  
  
  
  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.
  
  
  
  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. © 2016 International Parkinson and Movement Disorder Society.
authors.affiliation: Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Hendriekje
authors.initials: H
authors.lastname: Eggink
authors.affiliation: Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Martje E
authors.initials: ME
authors.lastname: van Egmond
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Corien C
authors.initials: CC
authors.lastname: Verschuuren-Bemelmans
authors.affiliation: Department of Rehabilitation, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Marleen C
authors.initials: MC
authors.lastname: Schönherr
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Tom J
authors.initials: TJ
authors.lastname: de Koning
authors.affiliation: Department of Neurosurgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: D L Marinus
authors.initials: DL
authors.lastname: Oterdoom
authors.affiliation: Department of Neurosurgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: J Marc C
authors.initials: JM
authors.lastname: van Dijk
authors.affiliation: Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Marina A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000199:Actins / Q000235:genetics*; D000328:Adult; D054062:Deaf-Blind Disorders / Q000235:genetics* / Q000628:therapy*; D046690:Deep Brain Stimulation / Q000379:methods*; D004421:Dystonia / Q000235:genetics* / Q000628:therapy*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000628:therapy*; D008875:Middle Aged; D009035:Mothers; D009154:Mutation; D009679:Nuclear Family; D009896:Optic Atrophy / Q000235:genetics* / Q000628:therapy*; D055815:Young Adult
chemical_list: D000199:Actins
keywords: Baraitser-Winter syndrome; beta-actin; deep brain stimulation; dystonia; dystonia-deafness syndrome