title: Pallidal deep brain stimulation for DYT6 dystonia.
abstract: BACKGROUND
  Mutations of the THAP1 gene were recently shown to underlie DYT6 torsion dystonia. Little is known about the response of this dystonia subtype to deep brain stimulation (DBS) at the internal globus pallidus (GPi).
  
  
  METHODS
  Retrospective analysis of the medical records of three DYT6 patients who underwent pallidal DBS by one surgical team. The Burke-Fahn-Marsden Dystonia Rating scale served as the primary outcome measure. Comparison is made to 23 patients with DYT1 dystonia also treated with GPi-DBS by the same team.
  
  
  RESULTS
  In contrast with the DYT1 patients who exhibited a robust and sustained clinical response to DBS, the DYT6 patients exhibited more modest gains during the first 2 years of therapy, and some symptom regression between years 2 and 3 despite adjustments to the stimulation parameters and repositioning of one stimulating lead. Microelectrode recordings made during the DBS procedures demonstrated no differences in the firing patterns of GPi neurons from DYT1 and DYT6 patients.
  
  
  CONCLUSIONS
  Discovery of the genetic mutations responsible for the DYT6 phenotype allows for screening and analysis of a new homogeneous group of dystonia patients. DYT6 patients appear to respond less robustly to GPi-DBS than their DYT1 counterparts, most likely reflecting differences in the underlying pathophysiology of these distinct genetic disorders.
  
  
  CONCLUSIONS
  While early results of pallidal DBS for DYT6 dystonia are encouraging, further research and additional subjects are needed both to optimise stimulation parameters for this population and to elucidate more accurately their response to surgical treatment.
authors.affiliation: Department of Neurosurgery, Mount Sinai School of Medicine, New York, New York, USA.
authors.forename: Fedor
authors.initials: F
authors.lastname: Panov
authors.forename: Michele
authors.initials: M
authors.lastname: Tagliati
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: Tania
authors.initials: T
authors.lastname: Fuchs
authors.forename: Yakov
authors.initials: Y
authors.lastname: Gologorsky
authors.forename: Tyler
authors.initials: T
authors.lastname: Cheung
authors.forename: Marat
authors.initials: M
authors.lastname: Avshalumov
authors.forename: Susan B
authors.initials: SB
authors.lastname: Bressman
authors.forename: Rachel
authors.initials: R
authors.lastname: Saunders-Pullman
authors.forename: Donald
authors.initials: D
authors.lastname: Weisz
authors.forename: Ron L
authors.initials: RL
authors.lastname: Alterman
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D018726:Anti-Dyskinesia Agents / Q000008:administration & dosage / Q000627:therapeutic use; D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D003627:Data Interpretation, Statistical; D046690:Deep Brain Stimulation / Q000379:methods*; D004185:Disability Evaluation; D004422:Dystonia Musculorum Deformans / Q000188:drug therapy / Q000235:genetics / Q000628:therapy*; D004567:Electrodes, Implanted; D005260:Female; D005917:Globus Pallidus / Q000502:physiology*; D006801:Humans; D008297:Male; D008839:Microelectrodes; D009154:Mutation / Q000235:genetics; D019635:Neurosurgical Procedures; D009687:Nuclear Proteins / Q000235:genetics; D012189:Retrospective Studies; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D018726:Anti-Dyskinesia Agents; D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human; D004247:DNA