title: [CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia].
abstract: OBJECTIVE
  To assess the frequency of the SCA1, SCA2,SCA3/MJD, SCA6, SCA7 and DRPLA CAG trinucleotide repeat expansions(CAG)n among individuals diagnosed with hereditary spinocerebellar ataxia(SCA) from Chinese families.
  
  
  METHODS
  The SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and DRPLA(CAG)n mutations were detected by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining technique in 167 patients with autosomal dominant SCA from 85 Chinese families and 37 sporadic SCA patients.
  
  
  RESULTS
  Among 85 families, four families(4.70%) had seven SCA1 patients with the CAG repeat expanded to 53 to 62 repeats, five (5.88%) had twelve SCA2 patients with the CAG repeat expanded to 43 to 47 repeats, and 41 (48.23%) had 83 SCA3/MJD patients with the CAG repeat expanded to 68 to 83 repeats. Analysis of the mutation in these families showed a strong negative correlation between the size of the expanded CAG repeat and the age of disease onset. None of the SCA patients were positive for SCA6, SCA7, or DRPLA. Nor was any of the sporadic SCA patients positive for the CAG repeat expansion in the SCA1, SCA2, SCA3/MJD, SCA6, SCA7, or DRPLA gene.
  
  
  CONCLUSIONS
  The frequency of SCA3/MJD is substantially higher than that of SCA1 and SCA2 in the autosomal dominant SCA from Chinese families. Chinese SCA3/MJD patients are non-Portuguese. Clinical expressions of the various SCAs overlap one another and hence can make the phenotype-based diagnostic classification inaccurate in many instances. It is important for SCA clinical studies to make an SCA gene diagnosis and genotype analysis.
authors.affiliation: Department of Neurology, Xiangya Hospital, Hunan Medical University, Changsha, Hunan, 410008 P. R.China. Yanxia@public.cs.hn.cn
authors.forename: B
authors.initials: B
authors.lastname: Tang
authors.forename: J
authors.initials: J
authors.lastname: Xia
authors.forename: D
authors.initials: D
authors.lastname: Wang
authors.forename: X
authors.initials: X
authors.lastname: Tang
authors.forename: L
authors.initials: L
authors.lastname: Shen
authors.forename: C
authors.initials: C
authors.lastname: Liu
authors.forename: H
authors.initials: H
authors.lastname: Dai
authors.forename: X
authors.initials: X
authors.lastname: Yan
authors.forename: Q
authors.initials: Q
authors.lastname: Pan
authors.forename: J
authors.initials: J
authors.lastname: Xiao
authors.forename: B
authors.initials: B
authors.lastname: Zhang
authors.forename: Y
authors.initials: Y
authors.lastname: Ou
mesh_terms: D000328:Adult; D000368:Aged; D002524:Cerebellar Ataxia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018911:Trinucleotide Repeats