title: [Clinical features and gene mutation analysis in Machado-Joseph disease of spinocerebellar ataxia type 3 in littoral of Zhejiang].
abstract: OBJECTIVE
  To study the clinical features and gene mutation analysis in Machado-Joseph disease of spinocerebellar ataxia type 3 in littoral of Zhejiang.
  
  
  METHODS
  Clinical manifestation and brain MRI data 18 patients with SCA in family were analyzed. The gene mutations of 18 patients and 10 family numbers without abnormal presentation, and 12 healthy persons of controls.
  
  
  RESULTS
  The gene mutations of 18 patients is SCA3/MJD, and 2 asymptomatic SCA3/MJD had been detected in SCA family. Normal alleles of SCA3/MJD have CAG repeats ranging from 14 to 27, patients from 67 to 82, asymptomatic and carrier SCA3/MJD from 28 to 45. The main features of 18 patients included gait ataxia, ambiguity in speech and action clumsiness. Brain MRI showed remarkable atrophy on cerebellum and brain stem.
  
  
  CONCLUSIONS
  CAG expansions were related to SCA3/MJD. The clinical manifestations are ataxia and dysarthria. The detection of repeated times CAG can provide an effective way for the genetic and asymptomatic diagnosis.
authors.affiliation: Department of Neurology, Wenling Affiliated Hospital of Wenzhou Medical College, Zhejiang 317500, China. wlsjnk@yahoo.com.cn
authors.forename: You-yu
authors.initials: YY
authors.lastname: Jin
authors.forename: Ai-ping
authors.initials: AP
authors.lastname: Zeng
authors.forename: Hai-bo
authors.initials: HB
authors.lastname: Cai
authors.forename: Feng
authors.initials: F
authors.lastname: Wu
authors.forename: Zhong
authors.initials: Z
authors.lastname: Feng
authors.forename: Qing
authors.initials: Q
authors.lastname: Hong
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Zhi-kai
authors.initials: ZK
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D000328:Adult; D000067699:Ataxin-3; D001921:Brain / Q000000981:diagnostic imaging; D002681:China; D005260:Female; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D011859:Radiography; D012097:Repressor Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult
chemical_list: D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3