, 10:157

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


  • A. Gorostidi
    • Neurogenetics LaboratoryHospital Donostia
  • J. Ruiz-Martínez
    • Department of NeurologyHospital Donostia
  • A. Lopez de Munain
    • Department of NeurologyHospital Donostia
  • A. Alzualde
    • Neurogenetics LaboratoryHospital Donostia
    • Department of NeurologyHospital Donostia
Short Communication

DOI: 10.1007/s10048-008-0162-0

Cite this article as:
Gorostidi, A., Ruiz-Martínez, J., Lopez de Munain, A. et al. Neurogenetics (2009) 10: 157. doi:10.1007/s10048-008-0162-0


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.


LRRK2Mutation frequencyPopulation heterogeneityLate-onset Parkinson’s disease

Supplementary material

10048_2008_162_MOESM1_ESM.ppt (44 kb)
Supplemental Figure 1Reported frequencies of LRRK2 G2019S and R1441G mutations in different regions of the Iberian Peninsula according to literature and our study [4, 7, 911]. Frequencies are expressed as number of mutation carrier patients per total PD analyzed patients for each study (PPT 44.0 KB)

Copyright information

© Springer-Verlag 2008