Funding agencies: Supported by grants API-2511 and BFR-0510 from Foundation Marqués de Valdecilla-IFIMAV (M.S.), Centro de Investigación en Red sobre enfermedades neurodegenerativas (CIBERNED), Instituto de Salud Carlos III (J.B., P.S.J., O.C., J.I.).
Article first published online: 27 SEP 2011
Copyright © 2011 Movement Disorder Society
Volume 26, Issue 13, pages 2343–2346, November 2011
How to Cite
Sierra, M., González-Aramburu, I., Sánchez-Juan, P., Sánchez-Quintana, C., Polo, J. M., Berciano, J., Combarros, O. and Infante, J. (2011), High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain). Mov. Disord., 26: 2343–2346. doi: 10.1002/mds.23965
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 22 NOV 2011
- Article first published online: 27 SEP 2011
- Manuscript Accepted: 29 AUG 2011
- Manuscript Revised: 4 AUG 2011
- Manuscript Received: 4 JUN 2011
- Parkinson's disease;
The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at-risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age-specific incidence of PD by the Kaplan-Meier method. Thirty-two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one-half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society