Abstract
Mutations in the leucine-rich repeat kinase 2 (LRRK2) and α-synuclein (SNCA) genes are known genetic causes of Parkinson's disease (PD). Recently, a genetic variant in SNCA has been associated with a lower age at onset in idiopathic PD (IPD). We genotyped the SNCA polymorphism rs356219 in 84 LRRK2-associated PD patients carrying the G2019S mutation. We found that a SNCA genetic variant is associated with an earlier age at onset in LRRK2-associated PD. Our results support the notion that SNCA variants can modify the pathogenic effect of LRRK2 mutations as described previously for IPD.
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Acknowledgments
We thank the patients, their relatives and the nurse, Ana Cámara, for their collaboration in the study. This project was supported by grants PI041639 from the Michael J. Fox Foundation to E.T., the grant “Miguel Servet” from the Instituto Carlos III to M. E., grant from the Spanish Ministry of Science and Innovation SAF2006-10126 (2006-2009) and SAF2010-22329-C02-01 (2011-2013) to P.P., the project 061131 from the “Fundació La Marató de TV3” and by the UTE project FIMA, Spain to P.P.. C.P. is supported by a CIBERNED post-MIR grant. T.B. is recipient of a predoctoral grant from IDIBAPS.
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Teresa Botta-Orfila and Mario Ezquerra contributed equally to this work.
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Botta-Orfila, T., Ezquerra, M., Pastor, P. et al. Age at Onset in LRRK2-Associated PD is Modified by SNCA Variants. J Mol Neurosci 48, 245–247 (2012). https://doi.org/10.1007/s12031-012-9820-7
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DOI: https://doi.org/10.1007/s12031-012-9820-7