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Published online before print January 10, 2007, doi:10.1212/01.wnl.0000254483.19854.ef)
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NEUROLOGY 2007;68:1141-1143
© 2007 American Academy of Neurology

Evaluation of LRRK2 G2019S penetrance

Relevance for genetic counseling in Parkinson disease

S. Goldwurm, MD, PhD, M. Zini, MD, L. Mariani, MD, PhD, S. Tesei, MD, R. Miceli, PhD, F. Sironi, M. Clementi, V. Bonifati, MD, PhD and G. Pezzoli, MD

From Istituti Clinici di Perfezionamento (S.G., M.Z., S.T., F.S., G.P.), Parkinson Institute-Milan; Unit of Medical Statistics and Biometry (L.M., R.M.), Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan; Molecular Genetics Laboratory (F.S.), Foundation "Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena," Milan; Clinical Genetic Service (M.C.), Department of Pediatrics, University of Padova, Italy; and Department of Clinical Genetics (V.B.), Erasmus MC Rotterdam, The Netherlands.

Address correspondence and reprint requests to Dr. Stefano Goldwurm, Parkinson Institute, Istituti Clinici di Perfezionamento, Via Bignami 1, 20126 Milan, Italy; e-mail: goldwurm{at}parkinson.it

We report the results of a family-based study of LRRK2 G2019S penetrance in Parkinson disease. We studied 19 families identified through the analysis of unrelated consecutive patients. The cumulative incidence of the disease was 15% at 60 years, 21% at 70 years, and 32% at 80 years. This study provides accurate estimates of G2019S penetrance by minimizing the selection bias.


This article was previously published in electronic format as an Expedited E-Pub on January 10, 2007, at www.neurology.org.

The "Human genetic bank of patients affected by PD and parkinsonisms" of the Parkinson Institute—Istituti Clinici di Perfezionamento, Milan (http://www.parkinson.it/dnabank.html) is supported by the Italian Telethon Foundation (grant no. GTF04007). Supported by the "Fondazione Grigioni per il Morbo di Parkinson" (award "Maria Vincenzina Grosso") to S. Goldwurm, and by the "Internationaal Parkinson Fonds" (The Netherlands) to V. Bonifati.

Disclosure: The authors report no conflicts of interest.

Received July 28, 2006. Accepted in final form November 13, 2006.




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