Article
Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2006
Pankratz Nathan, Pauciulo Michael W, Elsaesser Veronika E, Marek Diane K, Halter Cheryl A, Rudolph Alice, Shults Clifford W, Foroud Tatiana, Nichols William C
Abstract excerpt
A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G > A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Family Health
- Female
- Genetic Testing
- Glycine
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2