Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

Ji Feng Guo, Xue Wei Zhang, Li Luo Nie, Hai Nan Zhang, Bing Liao, Jing Li, Lei Wang, Xin Xiang Yan, Bei Sha Tang

Research output: Contribution to journalArticle

30 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1170-1175
Number of pages6
JournalJournal of Neurology
Volume257
Issue number7
DOIs
StatePublished - Jul 1 2010
Externally publishedYes

Keywords

  • Gene mutation
  • Genetics
  • Parkinson's disease
  • Phenotype

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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  • Cite this

    Guo, J. F., Zhang, X. W., Nie, L. L., Zhang, H. N., Liao, B., Li, J., Wang, L., Yan, X. X., & Tang, B. S. (2010). Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. Journal of Neurology, 257(7), 1170-1175. https://doi.org/10.1007/s00415-010-5485-8