[The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family].
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.
Shen
Ya-wei
YW
Department of Neurology, Xiangya Hospital of Central South University, Changsha 418000, China.
Tang
Bei-sha
BS
Yan
Xin-xiang
XX
Zhang
Yu-hu
YH
Guo
Ji-feng
JF
Jiang
Hong
H
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