High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)§

Authors

  • María Sierra MD,

    1. Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain
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  • Isabel González-Aramburu MD,

    1. Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain
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  • Pascual Sánchez-Juan MD,

    1. Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain
    2. Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain
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  • Coro Sánchez-Quintana Tech,

    1. Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain
    2. Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain
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  • José Miguel Polo MD,

    1. Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain
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  • José Berciano MD,

    1. Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain
    2. Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain
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  • Onofre Combarros MD,

    1. Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain
    2. Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain
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  • Jon Infante MD

    Corresponding author
    1. Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain
    2. Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain
    • Service of Neurology, Universitary Hospital “Marqués de Valdecilla”, 39008-Santander, Spain
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  • 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.).

  • 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.

Abstract

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

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