Article
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Oct 2016
Mata Ignacio F, Davis Marie Y, Lopez Alexis N, Dorschner Michael O, Martinez Erica, Yearout Dora, Cholerton Brenna A, Hu Shu-Ching, Edwards Karen L, Bird Thomas D, Zabetian Cyrus P
Abstract excerpt
Mutations in the LRRK2 gene result in autosomal dominant, late onset Parkinson's disease (PD). Three such mutations (p.R1441C, p.R1441G, and p.R1441H) are known to occur within codon 1441, and haplotype analyses indicate that each one has arisen independently on multiple occasions. We sequenced t...
Topics
- Aged
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Haplotypes
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Male
- Middle Aged
- Mutation, Missense