title: [Genetic and clinical analysis in a Parkinson's disease family caused by expansion of SCA2].
abstract: OBJECTIVE
  To analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene.
  
  
  METHODS
  The CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing.
  
  
  RESULTS
  Molecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family members. Two patients had pure CAG triplet repeat expansion in their ATXN2 gene, while others had CAA interruption.
  
  
  CONCLUSIONS
  Expanded CAG/CAA repeat in the ATXN2 gene is the causative mutation of the disease in this family.The 8 members with expanded CAG/CAA repeat may be asymptomatic patients. It is supposed that the number and configuration of the ATXN2 CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.
authors.affiliation: Neuroscience Care Unit, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, P.R. China. luoweirock@126.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xingjiao
authors.initials: X
authors.lastname: Lu
authors.forename: Zhidong
authors.initials: Z
authors.lastname: Cen
authors.forename: Jin
authors.initials: J
authors.lastname: Cao
authors.forename: Zhiyuan
authors.initials: Z
authors.lastname: Ouyang
authors.forename: Bo
authors.initials: B
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
mesh_terms: D000368:Aged; D000067698:Ataxin-2 / Q000235:genetics*; D001483:Base Sequence; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA / Q000379:methods; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C000593752:ATXN2 protein, human; D000067698:Ataxin-2