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In recent years, the molecular etiology of parkinsonism has yielded to genetic analysis.1 Mutations in the gene leucine-rich repeat kinase 2 (LRRK2) have the highest genotypic and population attributable risk. Disparate penetrance estimates have been reported using a variety of statistical analyses, ethnic populations, and sample sizes.2 We compared the age-associated cumulative incidence (penetrance) of LRRK2 p.G2019S patients from Tunisia and Norway.
Acknowledgments
Acknowledgment: The authors thank the individuals who participated in this study; Emil Gustavsson, Ilaria Guella, and Carles Vilarino-Guell for review comments; and Rachel Gibson, Lefkos Middleton, and the GlaxoSmithKline program team for prior collaborative efforts in Tunisia.
Footnotes
↵* These authors contributed equally to this work.
Supplemental data at Neurology.org
Author contributions: Dr. Hentati: study supervision, acquisition of data, analysis and interpretation. J. Trinh: analysis and first draft of the manuscript. C. Thompson: acquisition of data. Dr. Nosova: analysis and interpretation. Dr. Farrer: study concept, study supervision, analysis and interpretation, writing and revisions of the manuscript. Dr. Aasly: study supervision, acquisition of data, analysis and interpretation.
Study funding: Michael J. Fox Foundation (M.J.F., F.H., J.O.A.); the Canada Excellence Research Chairs program, the Canada Institutes of Health Research, and the Cundill Foundation (M.J.F.); Province of British Columbia, LifeLabs, and Genome BC for the Leading Edge Endowment Funds that support the Dr. Donald Rix BC Leadership Chair (M.J.F.) and Fellowship (J.T.).
Disclosure: F. Hentati receives limited sponsorship from H. Lundbeck A/S for studies related to LRRK2 p.G2019S. J. Trinh, C. Thompson, and E. Nosova report no disclosures relevant to the manuscript. M. Farrer has received royalties from H. Lundbeck A/S, licensing payments from Alnylam Pharmaceuticals, and consulting fees from Genzyme, Bristol Myers Squibb, and Sofinnova Ventures. J. Aasly is supported by the Norwegian Research Council and Reberg's Legacy. Mayo Foundation has received royalty payments from Athena Diagnostics for Drs. Aasly and Farrer for USA Patent 7,544,786 related to LRRK2 p.G2019S. Go to Neurology.org for full disclosures.
- Received October 25, 2013.
- Accepted in final form March 18, 2014.
- © 2014 American Academy of Neurology
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