title: [Clinical and genetic study of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease].
abstract: OBJECTIVE
  To investigate clinical features and genetic mutations of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease.
  
  
  METHODS
  Polymerase chain reaction and DNA sequencing were employed to analyze exon 10 of the SCA3 gene, in addition with all exons and flanking sequences of PKD1 and PKD2 genes. The clinical features were also carefully analyzed.
  
  
  RESULTS
  The numbers of CAG repeat in the proband's SCA3 gene were 28/76, with the number of repeats in the mutant allele being in the full range. The sequence of exon 23 of the PKD1 gene was also found to be abnormal. Clinical symptoms of the proband were very serious, which were characterized by obvious ataxia, pyramidal signs, Meige syndrome, depression and high blood pressure.
  
  
  CONCLUSIONS
  Hereditary spinocerebellar ataxia 3 and autonomic dominant polycystic kidney disease may co-occur, and genetic testing is the primary means of diagnosis.
authors: Department of Neurology, First Affiliated Hospital of Kunming Medical College, Kunming, Yunnan 650032, P. R. China. Email: 806314048@qq.com.
authors: Haijiang
authors: H
authors: Li
authors: Linming
authors: L
authors: Zhang
authors: Tao
authors: T
authors: Chen
authors: Dan
authors: D
authors: Yang
authors: Yangfan
authors: Y
authors: Zhu
authors: Lihong
authors: L
authors: Wang
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D020754:Spinocerebellar Ataxias / Q000235:genetics*