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. © 2012 Springer Science+Business Media, LLC.
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Botta-Orfila, T., Ezquerra, M., Pastor, P., Fernández-Santiago, R., Pont-Sunyer, C., Compta, Y., … Tolosa, E. (2012). Age at onset in LRRK2-associated PD is modified by SNCA variants. Journal of Molecular Neuroscience, 48(1), 245–247. https://doi.org/10.1007/s12031-012-9820-7
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