title: [Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism].
abstract: OBJECTIVE
  To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).
  
  
  METHODS
  Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.
  
  
  RESULTS
  No pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A.
  
  
  CONCLUSIONS
  ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.
authors.affiliation: Department of Neurology, Xiangya Hospital of Central South University, Changsha, Hunan, 410008, PR China.
authors.forename: Dan
authors.initials: D
authors.lastname: He
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Zhi-quan
authors.initials: ZQ
authors.lastname: Xiao
authors.forename: Li-luo
authors.initials: LL
authors.lastname: Nie
authors.forename: Xue-wei
authors.initials: XW
authors.lastname: Zhang
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020734:Parkinsonian Disorders / Q000453:epidemiology* / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D006180:Proton-Translocating ATPases / Q000235:genetics*
chemical_list: C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases