Article
LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2012
Lorenzo-Betancor Oswaldo, Samaranch Lluís, Ezquerra Mario, Tolosa Eduardo, Lorenzo Elena, Irigoyen Jaione, Gaig Carles, Pastor María A, Soto-Ortolaza Alexandra I, Ross Owen A, Rodríguez-Oroz María C, Valldeoriola Francesc, Martí María J, Luquin María R, Perez-Tur Jordi, Burguera Juan A, Obeso José A, Pastor Pau
Abstract excerpt
BACKGROUND AND OBJECTIVE: Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families. DESIGN: We...
Topics
- Adult
- Age Factors
- Aged
- Arginine
- Chromosomes, Human, Pair 12
- DNA Mutational Analysis
- Family Health
- Female
- Genetic Linkage
- Haplotypes