Lrrk2 mutations in South America: A study of Chilean Parkinson's disease

Carolina Perez-Pastene, Stephanie A. Cobb, Fernando Díaz-Grez, Mary M. Hulihan, Marcelo Miranda, Pablo Venegas, Osvaldo Trujillo Godoy, Jennifer M. Kachergus, Owen A. Ross, Luis Layson, Matthew J. Farrer, Juan Segura-Aguilar

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population. In this study we examined the frequency of these two substitutions in 166 Parkinson's disease patients and 153 controls from Chile, a population with Spanish/European-Amerindian admixture. Lrrk2 R1441G was not observed, however Lrrk2 G2019S was detected in one familial and four sporadic Parkinson's disease patients. These findings suggest Lrrk2 G2019S may play an important role in Parkinson's disease on the South American Continent and further studies are now warranted.

Original languageEnglish (US)
Pages (from-to)193-197
Number of pages5
JournalNeuroscience Letters
Issue number3
StatePublished - Jul 18 2007


  • Amerindian
  • LRRK2
  • Mutation
  • Parkinson's disease

ASJC Scopus subject areas

  • Neuroscience(all)


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