Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.

@article{Floris2009GeneticAF,
  title={Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.},
  author={Gianluca Floris and Antonino Cannas and Paolo Solla and Maria Rita Murru and Stefania Tranquilli and Daniela Corongiu and Marcella Rolesu and Stefania Cuccu and Claudia Sardu and Francesco Marrosu and Maria Giovanna Marrosu},
  journal={Parkinsonism & related disorders},
  year={2009},
  volume={15 4},
  pages={277-80}
}
Mutations in the LRRK2 gene are the most common known cause of familial and sporadic Parkinson's disease (PD). Few studies performed to date to assess frequency of these mutations are actually only representative of specific areas. Here we study the frequency and clinical phenotype of LRRK2 G2019S, I2020T and R1441C/G/H mutations in 356 Sardinian patients with idiopathic PD and 208 controls. Seventeen additional subjects, relatives of PD mutated probands, were enrolled. Eight patients were… CONTINUE READING