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Illarioshkin, S.N., Ivanova-Smolenskaya, I.A., Markova, E.D., et al. (2000) Lack of alpha-synuclein gene mutations in families with autosomal dominant Parkinson’s disease in Russia. Journal of Neurology, 247, 968-969. doi:10.1007/s004150070056

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• TITLE: Analysis of known point mutations and SNPs in genes responsible for monogenic Parkinson’s disease in Russian patients

  AUTHORS: Elena V. Filatova, Maria I. Shadrina, Ekaterina Y. Fedotova, Irina A. Ivanova-Smolenskaya, Sergei N. Illarioshkin, Svetlana A. Limborska, Petr A. Slominsky

  KEYWORDS: Parkinson’s Disease; Point Mutations; Single-Nucleotide Polymorphisms

  JOURNAL NAME: Advances in Parkinson's Disease, Vol.2 No.1, February 18, 2013

  ABSTRACT: Background: Parkinson’s disease (PD) is caused by complex interactions between genetic and environmental factors. Mendelian forms of PD rarely occur in practice, but respective genes may play some role in pathogenesis of a common sporadic form of the disease. Methods: We analyzed most frequent known point mutations (PMs) and single-nucleotide polymorphisms (SNPs) in genes responsible for monogenic PD in 408 Russian patients, using arrayed primer extension (APEX), real-time PCR, and restriction fragment length polymorphism analysis. Results: We detected only three heterozygous PMs in the PARK2 gene in three non-related patients with early-onset sporadic PD. No association between PD and the studied SNPs was identified. Conclusion: The examined PMs and SNPs in genes responsible for monogenic PD do not contribute significantly to the development of sporadic PD in Russia.