Article
Clinical heterogeneity of the LRRK2 G2019S mutation.
Archives of neurology - 1 Sept 2006
Papapetropoulos Spiridon, Singer Carlos, Ross Owen A, Toft Mathias, Johnson Joseph L, Farrer Matthew J, Mash Deborah C
Abstract excerpt
BACKGROUND: Several pathogenic mutations have been reported in the leucine-rich repeat kinase 2 gene (LRRK2) that cause parkinsonism. The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease. OBJECTIVE:...
Topics
- Aged
- Aged, 80 and over
- Case-Control Studies
- DNA Mutational Analysis
- Female
- Glycine
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Male
- Models, Molecular
- Mutation
- Parkinson Disease
- Protein Serine-Threonine Kinases
- Serine