title: Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study.
abstract: OBJECTIVE
  To assess the efficacy of bilateral deep brain stimulation of the internal pallidum in patients with myoclonus-dystonia due to genetically proved ε-sarcoglycan (SGCE-M-D) deficiency.
  
  
  METHODS
  Patients with documented SGCE-M-D undergoing bilateral deep brain stimulation of the internal pallidum were recruited. Standardized assessments of M-D were videorecorded before surgery and 6 to 9 months and 15 to 18 months after surgery, using the movement and disability subscales of the Burke-Fahn-Marsden Dystonia Rating Scale and the Unified Myoclonus Rating Scale. The analysis was based on blinded evaluation of the recordings.
  
  
  METHODS
  Movement disorder unit in a university hospital in Paris.
  
  
  METHODS
  Five consecutive patients with documented SGCE-M-D.
  
  
  METHODS
  Myoclonus and dystonia scores at follow-up.
  
  
  RESULTS
  The median myoclonus score decreased from 76 before surgery (range, 38-116) to 10 at 6 to 9 months after surgery (range, 6-31). The median dystonia score decreased from 30.0 before surgery (range, 18.5-53.0) to 4.5 after surgery (range, 3.5-16.0). Disability was also improved and symptoms remained stable between the postoperative evaluations. No adverse effects occurred.
  
  
  CONCLUSIONS
  Bilateral deep brain stimulation of the internal pallidum is safe and highly effective in this homogeneous population of patients with SGCE-M-D. This therapeutic option should therefore be considered for patients with severe, drug-resistant forms of the disorder.
authors.affiliation: Service de Neurologie, Groupe Hospitalier Paris Saint Joseph, Université Paris 5, Paris, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Azoulay-Zyss
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Welter
authors.forename: Soledad
authors.initials: S
authors.lastname: Navarro
authors.forename: Jérôme
authors.initials: J
authors.lastname: Yelnik
authors.forename: Fabienne
authors.initials: F
authors.lastname: Clot
authors.forename: Eric
authors.initials: E
authors.lastname: Bardinet
authors.forename: Carine
authors.initials: C
authors.lastname: Karachi
authors.forename: Didier
authors.initials: D
authors.lastname: Dormont
authors.forename: Damien
authors.initials: D
authors.lastname: Galanaud
authors.forename: Bernard
authors.initials: B
authors.lastname: Pidoux
authors.forename: Philippe
authors.initials: P
authors.lastname: Cornu
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: David
authors.initials: D
authors.lastname: Grabli
mesh_terms: D000328:Adult; D000368:Aged; D046690:Deep Brain Stimulation / Q000379:methods*; D020821:Dystonic Disorders / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D005260:Female; D005917:Globus Pallidus / Q000502:physiology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010865:Pilot Projects; D049031:Sarcoglycans / Q000172:deficiency / Q000235:genetics*
chemical_list: D049031:Sarcoglycans