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

Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

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.

Detaljer

Författare
  • Hendriekje Eggink
  • Martje E. van Egmond
  • Corien C. Verschuuren-Bemelmans
  • Marleen C. Schönherr
  • Tom J. de Koning
  • D. L.Marinus Oterdoom
  • J. Marc C. van Dijk
  • Marina A.J. Tijssen
Externa organisationer
  • University Medical Center Groningen
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Medicinsk genetik

Nyckelord

Originalspråkengelska
Sidor (från-till)162-165
Antal sidor4
TidskriftMovement Disorders
Volym32
Utgåva nummer1
StatusPublished - 2017 jan 1
PublikationskategoriForskning
Peer review utfördJa
Externt publiceradJa