TY - JOUR
T1 - Lrrk2 mutations in South America
T2 - A study of Chilean Parkinson's disease
AU - Perez-Pastene, Carolina
AU - Cobb, Stephanie A.
AU - Díaz-Grez, Fernando
AU - Hulihan, Mary M.
AU - Miranda, Marcelo
AU - Venegas, Pablo
AU - Godoy, Osvaldo Trujillo
AU - Kachergus, Jennifer M.
AU - Ross, Owen A.
AU - Layson, Luis
AU - Farrer, Matthew J.
AU - Segura-Aguilar, Juan
N1 - Funding Information:
This work is supported by FONDECYT # 1061083. The Department of Neuroscience at the Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256) and is funded by the National Institute of Aging (P01 #AG17216).
PY - 2007/7/18
Y1 - 2007/7/18
N2 - 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.
AB - 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.
KW - Amerindian
KW - LRRK2
KW - Mutation
KW - Parkinson's disease
UR - http://www.scopus.com/inward/record.url?scp=34447542402&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34447542402&partnerID=8YFLogxK
U2 - 10.1016/j.neulet.2007.06.021
DO - 10.1016/j.neulet.2007.06.021
M3 - Article
C2 - 17614198
AN - SCOPUS:34447542402
SN - 0304-3940
VL - 422
SP - 193
EP - 197
JO - Neuroscience Letters
JF - Neuroscience Letters
IS - 3
ER -