Dergi makalesi Açık Erişim

A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype

2009    Pirkevi, C.; Lesage, S.; Condroyer, C.; Tomiyama, H.; Hattori, N.; Ertan, S.; Brice, A.; Basak, A. N.

The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.