Article

LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity

CIBERNED Madrid Spain
Neurogenetics (Impact Factor: 2.66). 04/2009; 10(2):157-159. DOI: 10.1007/s10048-008-0162-0

ABSTRACT Mutations in LRRK2 gene are the most frequent cause of Parkinson’s disease (PD) described, but their prevalence varies between
populations. Patients, 418, with PD and 138 unrelated controls from the Basque Country were screened for LRRK2 G2019S and
R1441G mutations. Of the patients, 3.82% were heterozygous carriers of G2019S and 13.15% of R1441G. G2019S frequency was higher
in non-Basque population (6.0%), while R1441G was more common in Basque origin population (22.4%). Our conclusion is that
both G2019S and R1441G mutations’ frequency varies markedly between Basque and non-Basque origin population reinforcing the
importance of ethnicity consideration when establishing mutation prevalence.

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Available from: Javier Ruiz-Martínez, Jun 19, 2014
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