title: Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia.
abstract: BACKGROUND
  A missense mutation of the THAP1 gene results in DYT6 primary dystonia. While deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in treating primary dystonia, recent reports indicate that GPi DBS is only mildly effective for DYT6 dystonia.
  
  
  OBJECTIVE
  To describe a patient with DYT6 dystonia who underwent thalamic ventral lateral anterior (VLa) nucleus DBS.
  
  
  METHODS
  A 35-year-old Japanese man had been experiencing upper limb dystonia and spasmodic dysphonia since the age of 15. His dystonic symptoms progressed to generalized dystonia. He was diagnosed as having DYT6 dystonia with mutations in the THAP1 gene. Because his dystonic symptoms were refractory to pharmacotherapy and pallidal DBS, he underwent thalamic VLa DBS.
  
  
  RESULTS
  Continuous bilateral VLa stimulation with optimal parameter settings ameliorated the patient's dystonic symptoms. At the 2-year follow-up, his Burke-Fahn-Marsden Dystonia Rating Scale total score decreased from 71 to 11, an improvement of more than 80%.
  
  
  CONCLUSIONS
  The thalamic VLa nucleus could serve as an alternative target in DBS therapy for DYT6 dystonia.
authors.affiliation: Parkinson's Disease and Dystonia Research Center, Tokushima University Hospital, University of Tokushima, Tokushima, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Mure
authors.forename: Ryoma
authors.initials: R
authors.lastname: Morigaki
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Koizumi
authors.forename: Shinya
authors.initials: S
authors.lastname: Okita
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Miyamoto
authors.forename: Ryuji
authors.initials: R
authors.lastname: Kaji
authors.forename: Shinji
authors.initials: S
authors.lastname: Nagahiro
authors.forename: Satoshi
authors.initials: S
authors.lastname: Goto
mesh_terms: D000328:Adult; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D046690:Deep Brain Stimulation; D020821:Dystonic Disorders / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D016896:Treatment Outcome; D020651:Ventral Thalamic Nuclei / Q000503:physiopathology*
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human