Journal
JOURNAL OF NEUROLOGY
Volume 257, Issue 7, Pages 1170-1175Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-010-5485-8
Keywords
Parkinson's disease; Genetics; Gene mutation; Phenotype
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Funding
- Major State Basic Research Development Program of China (973 Program) [2006cb500700]
- National 863'' High-Tech Research and Development Program of China [2006AA02A408]
- National Natural Science Foundation of China [30570638, 30770735, 30971035, 30900469]
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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.
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