Age at Onset in LRRK2-Associated PD is Modified by SNCA Variants

作者：Botta Orfila Teresa; Ezquerra Mario; Pastor Pau; Fernandez Santiago Ruben; Pont Sunyer Claustre; Compta Yaroslau; Lorenzo Betancor Oswaldo; Samaranch Lluis; Jose Marti Maria; Valldeoriola Francesc; Calopa Matilde; Fernandez Manel; Aguilar Miquel; de Fabregas Oriol; Hernandez Vara Jorge; Tolosa Eduard^*

来源：Journal of Molecular Neuroscience, 2012, 48(1): 245-247.

DOI：10.1007/s12031-012-9820-7

• Parkinson
• SNCA
• rs356219
• LRRK2
• age-at-onset

Mutations in the leucine-rich repeat kinase 2 (LRRK2) and alpha-synuclein (SNCA) genes are known genetic causes of Parkinson%26apos;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.

• 出版日期2012-9