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Article

Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease.

European journal of neurology - 1 Dec 2010

Abdalla-Carvalho C B, Santos-Rebouças C B, Guimarães B C, Campos M, Pereira J S, de Rosso A L Zuma, Nicaretta D H, Marinho e Silva M, dos Santos Mendonça J, Pimentel M M G

Abstract excerpt

BACKGROUND AND PURPOSE: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson's disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains. METHODS: Exons 29-31 and 38-44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian. RESULTS: We identified four polymorphisms, a novel silent variant p.R1398R and...

Topics

Aged
Brazil
Exons
Female
Genetic Predisposition to Disease
Genotype
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Parkinson Disease

Protein Serine-Threonine Kinases

Sequence Analysis, DNA

Source

Identifiers

PMID: 20443975
DOI: 10.1111/j.1468-1331.2010.03039.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-20443975-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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