Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease

Neurosci Lett. 2005 Dec 16;390(1):1-3. doi: 10.1016/j.neulet.2005.07.045.

Abstract

Mutations in the leucine-rich repeat kinase 2 (LRRK 2), encoding dardarin protein, have been demonstrated to be linked to autosomal dominant Parkinson's disease (PD). In the present study the entire exon 41 of LRRK 2 gene was evaluated in a series of 174 PD patients recruited from Polish population, aged at the time of diagnosis 54.0+/-39.1 years, 21 of them had positive family history of PD with mean onset of the disease of 51.9+/-11.7 years as well as in 190 healthy controls aged 73.7+/-6.0 years. The mutations were evaluated by direct sequencing for mutations in exon 41 of LRRK 2 gene. In the studied patients no known mutations in exon 41 of LRRK 2 gene, including G 2019 S and I 2020 T were found, both in PD patients as well as in the controls. It can be concluded that the G 2019 S and I 2020 T mutations in exon 41 of LRRK 2 gene are rare causes of Parkinson disease in a Polish population.

Publication types

  • Clinical Trial
  • Controlled Clinical Trial

MeSH terms

  • Aged
  • Biomarkers / analysis
  • DNA Mutational Analysis / methods
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Testing / methods*
  • Humans
  • Incidence
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mutation
  • Parkinson Disease / enzymology*
  • Parkinson Disease / epidemiology*
  • Parkinson Disease / genetics
  • Poland / epidemiology
  • Polymorphism, Genetic*
  • Protein Serine-Threonine Kinases / genetics*
  • Risk Assessment / methods*
  • Risk Factors

Substances

  • Biomarkers
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases