title: Clinical feature and DYT1 mutation screening in primary dystonia patients from South-West China.
abstract: BACKGROUND
  Clinical presentation and DYT1 status amongst Chinese patients with primary dystonia have not been well studied.
  
  
  METHODS
  One hundred and twenty patients with primary dystonia from South-West China were studied in a prospective survey for 3.5 years. Severity and the resulting disability were assessed using the Burke-Fahn-Marsden dystonia rating scale (BFMDRS). Health related quality of life (HRQL) was measured through the 36-item short-form (SF-36). The Hospital Anxiety and Depression Scale (HADS) was utilized to identify and quantify depression and anxiety. Mutations in the DYT1 exon 5 were screened by direct sequencing.
  
  
  RESULTS
  Cervical dystonia was found to be the most frequent form of focal dystonia and was discovered to occur at an early age. Pain and tremor were the common associated symptoms. Family history was positive in 19.5% of the cases, with a trend of earlier onset. Depression (14.5%) and anxiety (6.6%) were the main HRQL impairments. Multiple linear regression analysis suggested that gender, depression, anxiety and functional disability were amongst the principal determinants of lower HRQL. Only one instance of DYT1 GAG deletion (1.4%) was detected in 71 patients.
  
  
  CONCLUSIONS
  Our data on a cohort of Chinese patients show some difference from descriptions in other ethnic groups. This includes an earlier age of onset, a lower incidence of depression and female serving as a predictor factor of a HRQL. Similar to other cohorts, DYT1 gene mutations are rare.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: S-S
authors.initials: SS
authors.lastname: Zhang
authors.forename: D-F
authors.initials: DF
authors.lastname: Fang
authors.forename: X-H
authors.initials: XH
authors.lastname: Hu
authors.forename: J-M
authors.initials: JM
authors.lastname: Burgunder
authors.forename: X-P
authors.initials: XP
authors.lastname: Chen
authors.forename: Y-W
authors.initials: YW
authors.lastname: Zhang
authors.forename: H-F
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D011788:Quality of Life / Q000523:psychology; D012737:Sex Factors
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human