title: [Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism].
abstract: OBJECTIVE
  To investigate the gene mutations and the clinical features of Chinese patients with autosomal recessive juvenile parkinsonism(AR-JP).
  
  
  METHODS
  the polymerase chain reaction (PCR), DNA sequence analysis, and restriction enzyme digestion analysis were applied to check parkin gene mutations of 15 index patients from 15 families with AR-JP.
  
  
  RESULTS
  Three families were detected to have parkin mutations. Two of them had heterozygous deletion mutations (202-203 del AG in exon 2, 1069-1074 del GTGTCC in exon 9) and another of them carried a heterozygous missense mutation [1422(T-->C) in exon 12]. Two of the mutations [1069-1074delGTGTCC and 1422(T-->C)] were not reported previously. There were six patients in the three families. Mean age at onset was 25.2+/-5.7 years, ranging from 18 to 31 years. The symptoms were under slow progression, diurnal fluctuation with sleep benefit, and hyperreflexia were relatively prominent. Response to levodopa was satisfactory.
  
  
  CONCLUSIONS
  There are parkin mutations happened in Chinese patients with AR-JP. Patients with parkin mutations have distinct clinical features besides the common clinical features of Parkinson's disease.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R.China.
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Yu-hu
authors.initials: YH
authors.lastname: Zhang
authors.forename: Hong-jian
authors.initials: HJ
authors.lastname: Liu
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Tao
authors.initials: T
authors.lastname: Chen
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
mesh_terms: D000328:Adult; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D010641:Phenotype; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein