期刊
JOURNAL OF MOLECULAR NEUROSCIENCE
卷 48, 期 1, 页码 245-247出版社
SPRINGERNATURE
DOI: 10.1007/s12031-012-9820-7
关键词
Parkinson; SNCA; rs356219; LRRK2; age-at-onset
资金
- Michael J. Fox Foundation [PI041639]
- Instituto Carlos III
- Spanish Ministry of Science and Innovation [SAF2006-10126, SAF2010-22329-C02-01]
- Fundacio La Marato de TV3 [061131]
- UTE project FIMA, Spain
- CIBERNED post-MIR grant
- IDIBAPS
Mutations in the leucine-rich repeat kinase 2 (LRRK2) and alpha-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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