Article
LRRK2: Genetic mechanisms vs genetic subtypes.
Handbook of clinical neurology - 1 Jan 2023
Mata Ignacio, Salles Philippe, Cornejo-Olivas Mario, Saffie Paula, Ross Owen A, Reed Xylena, Bandres-Ciga Sara
Abstract excerpt
In 2004, the identification of pathogenic variants in the LRRK2 gene across several families with autosomal dominant late-onset Parkinson's disease (PD) revolutionized our understanding of the role of genetics in PD. Previous beliefs that genetics in PD was limited to rare early-onset or familial forms of the disease were quickly dispelled. Currently, we recognize LRRK2 p.G2019S as the most common genetic cause...
Topics
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Mutation
- Genetic Predisposition to Disease
- Heterozygote
- Penetrance
- Parkinson Disease