@article{cefffc10adc64da3826fa8989408defb,
title = "Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism",
abstract = "Early onset parkinsonism (EOP) has been associated with mutations in the Parkin, PINK1, and DJ-1 genes. We studied the prevalence of mutations in all three genes in 127 unrelated Chinese patients with apparently sporadic EOP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 16 patients (12.6%) with mutations of Parkin gene, four patients (3.1%) with mutations of PINK1 gene, and three patients (2.4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.",
keywords = "Gene mutation, Genetics, Parkinson's disease, Phenotype",
author = "Guo, {Ji Feng} and Zhang, {Xue Wei} and Nie, {Li Luo} and Zhang, {Hai Nan} and Bin Liao and Jing Li and Lei Wang and Yan, {Xin Xiang} and Tang, {Bei Sha}",
note = "Funding Information: This work was supported by grant 2006cb500700 from the Major State Basic Research Development Program of China (973 Program) (to Dr. Beisha Tang), grant 2006AA02A408 from the National “863” High-Tech Research and Development Program of China (to Dr. Beisha Tang), grants 30570638, 30770735 and 30971035 from the National Natural Science Foundation of China (to Dr. Beisha Tang), grants 30900469 from the National Natural Science Foundation of China (to Dr. Jifeng Guo). We would like to thank Drs. Lucking, Brice, Valente, Bonifati for providing us with the positive control with heterozygous exon deletion of Parkin, PINK1 and DJ-1, respectively. We would like to thank the families for their participation in this study. ",
year = "2010",
month = jul,
doi = "10.1007/s00415-010-5485-8",
language = "English (US)",
volume = "257",
pages = "1170--1175",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "D. Steinkopff-Verlag",
number = "7",
}