title: Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.
abstract: 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.
authors.affiliation: Molecular and Clinical Pharmacology, ICBM, Faculty of Medicine, University of Chile, Casilla 70000, Santiago-7, Chile.
authors.forename: Carolina
authors.initials: C
authors.lastname: Perez-Pastene
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Cobb
authors.forename: Fernando
authors.initials: F
authors.lastname: Díaz-Grez
authors.forename: Mary M
authors.initials: MM
authors.lastname: Hulihan
authors.forename: Marcelo
authors.initials: M
authors.lastname: Miranda
authors.forename: Pablo
authors.initials: P
authors.lastname: Venegas
authors.forename: Osvaldo Trujillo
authors.initials: OT
authors.lastname: Godoy
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Kachergus
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
authors.forename: Luis
authors.initials: L
authors.lastname: Layson
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: Juan
authors.initials: J
authors.lastname: Segura-Aguilar
mesh_terms: D017668:Age of Onset; D002677:Chile / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases