title: Mutation screening of GNAL gene in patients with primary dystonia from Northeast China.
abstract: BACKGROUND
  Mutations in GNAL have recently been identified as responsible for primary dystonia, however, GNAL mutations in Chinese patients with primary dystonia are not well characterized.
  
  
  METHODS
  Fifty-nine unrelated patients with cervical onset or cervical involved primary dystonia and 120 neurologically normal controls from Northeast China without mutations of TOR1A and THAP1 were all screened for mutation of GNAL gene.
  
  
  RESULTS
  One subject with adult-onset generalized dystonia was found have a novel nonsense GNAL mutation (c.284C>T, p.Ser95X). Another subject with adult-onset cervical dystonia was found harbor the c.932-7T>G tentative splice site mutation. Although another seventeen sequence variants were identified in both patients and controls, no disease association was found among these sequence variants.
  
  
  CONCLUSIONS
  Mutations in GNAL gene can cause adult-onset primary dystonia in Chinese patients, and the mutation frequency is 3.4% in cervical onset or cervical involved primary dystonia. This paper identifies the first case of GNAL dystonia in the Chinese population.
authors.affiliation: Department of Neurology, the First Affiliated Hospital of Jilin Univerisity, Xinmin Street 71, Changchun 130021, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Miao
authors.forename: Xin-Hua
authors.initials: XH
authors.lastname: Wan
authors.forename: Yuan
authors.initials: Y
authors.lastname: Sun
authors.forename: Jia-Chun
authors.initials: JC
authors.lastname: Feng
authors.forename: Fu-Bo
authors.initials: FB
authors.lastname: Cheng
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004421:Dystonia / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D044385:GTP-Binding Protein alpha Subunits; C084618:olfactory G protein subunit alpha olf; D004247:DNA
keywords: Chinese population; Clinical features; GNAL gene; Mutations; Primary dystonia