4.4 Article

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

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

  1. Michael J. Fox Foundation [PI041639]
  2. Instituto Carlos III
  3. Spanish Ministry of Science and Innovation [SAF2006-10126, SAF2010-22329-C02-01]
  4. Fundacio La Marato de TV3 [061131]
  5. UTE project FIMA, Spain
  6. CIBERNED post-MIR grant
  7. IDIBAPS

向作者/读者索取更多资源

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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