Short Communication


, Volume 10, Issue 2, pp 157-159

First online:

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

  • A. GorostidiAffiliated withNeurogenetics Laboratory, Hospital DonostiaCIBERNED
  • , J. Ruiz-MartínezAffiliated withDepartment of Neurology, Hospital DonostiaCIBERNED
  • , A. Lopez de MunainAffiliated withDepartment of Neurology, Hospital Donostia
  • , A. AlzualdeAffiliated withNeurogenetics Laboratory, Hospital DonostiaCIBERNED
  • , J. F. Martí MassóAffiliated withDepartment of Neurology, Hospital Donostia Email author 

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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.


LRRK2 Mutation frequency Population heterogeneity Late-onset Parkinson’s disease