title: [The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family].
abstract: OBJECTIVE
  To understand clinic and genetic characteristics of Chinese AR-JP.
  
  
  METHODS
  The clinical dates of 1 Chinese AR-JP family was collected and analysed. Genomic DNA was extracted by standard techniques from venous blood leukocytes of members in three women of the family, polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) analysis and DNA sequencing were used to detect mutation of parkin gene.
  
  
  RESULTS
  Onset age of 2 Chinese AR-JP patients is young, periods of disease is long, clinical manifestation include: resting tremor, rigidity, bradykinesias, disability, a good response to levodopa, but early levodopa induced symptom fluctuation; but no hyperactive tendon reflexes, sleep benefit, and foot dystonia. Parkin mutation analysis in 2 patients of the family discovered abnormal SSCP electrophoresis band, by DNA examination, conformed 2 base deletion mutation (exon 2 202-203delAG).
  
  
  CONCLUSIONS
  Clinical features of Chinese AR-JP patients are different with Japanese AR-JP, similar with late-onset Parkinson disease; our study detected a parkin mutation (exon 2 202-203delAG), conform mutation of parkin gene is a cause of AR-JP in Chinese.
authors: Department of Neurology, Xiangya Hospital of Central South University, Changsha 418000, China.
authors: Ya-wei
authors: YW
authors: Shen
authors: Bei-sha
authors: BS
authors: Tang
authors: Xin-xiang
authors: XX
authors: Yan
authors: Yu-hu
authors: YH
authors: Zhang
authors: Ji-feng
authors: JF
authors: Guo
authors: Hong
authors: H
authors: Jiang
mesh_terms: D000328:Adult; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA