Article
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society - 15 Feb 2007
Toft Mathias, Mata Ignacio F, Ross Owen A, Kachergus Jennifer, Hulihan Mary M, Haugarvoll Kristoffer, Stone Jeremy T, Blazquez Marta, Gibson J Mark, Aasly Jan O, White Linda R, Lynch Timothy, Adler Charles H, Gwinn-Hardy Katrina, Farrer Matthew J
Abstract excerpt
An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45)....
Topics
- Aged
- Aged, 80 and over
- Arginine
- Case-Control Studies
- Female
- Genetic Predisposition to Disease
- Glutamine
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2