Potential conflict of interest: The authors declare that they have no conflicts of interest that relate to the research covered in the article.
Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)†
Article first published online: 18 AUG 2010
Copyright © 2010 Movement Disorder Society
Volume 25, Issue 14, pages 2340–2345, 30 October 2010
How to Cite
Ruiz-Martínez, J., Gorostidi, A., Ibañez, B., Alzualde, A., Otaegui, D., Moreno, F., de Munain, A. L., Bergareche, A., Gómez-Esteban, J. C. and Massó, J. F. M. (2010), Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain). Mov. Disord., 25: 2340–2345. doi: 10.1002/mds.23278
- Issue published online: 25 OCT 2010
- Article first published online: 18 AUG 2010
- Manuscript Accepted: 6 MAY 2010
- Manuscript Revised: 14 JAN 2010
- Manuscript Received: 4 DEC 2009
- Parkinson's disease;
The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance. © 2010 Movement Disorder Society.