Article
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal.
Movement disorders : official journal of the Movement Disorder Society - 15 Jun 2007
Ferreira Joaquim J, Guedes Leonor Correia, Rosa Mário Miguel, Coelho Miguel, van Doeselaar Marina, Schweiger Dorothea, Di Fonzo Alessio, Oostra Ben A, Sampaio Cristina, Bonifati Vincenzo
Abstract excerpt
Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD...
Topics
- Adult
- Aged
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Male
- Middle Aged
- Parkinson Disease