Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

doi:10.1038/sj.ejhg.5201539

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Article

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

European journal of human genetics : EJHG - 1 Mar 2006

Di Fonzo Alessio, Tassorelli Cristina, De Mari Michele, Chien Hsin F, Ferreira Joaquim, Rohé Christan F, Riboldazzi Giulio, Antonini Angelo, Albani Gianni, Mauro Alessandro, Marconi Roberto, Abbruzzese Giovanni, Lopiano Leonardo, Fincati Emiliana, Guidi Marco, Marini Paolo, Stocchi Fabrizio, Onofrj Marco, Toni Vincenzo, Tinazzi Michele, Fabbrini Giovanni, Lamberti Paolo, Vanacore Nicola, Meco Giuseppe, Leitner Petra, Uitti Ryan J, Wszolek Zbigniew K, Gasser Thomas, Simons Erik J, Breedveld Guido J, Goldwurm Stefano, Pezzoli Gianni, Sampaio Cristina, Barbosa Egberto, Martignoni Emilia, Oostra Ben A, Bonifati Vincenzo

Abstract excerpt

Mutations in the gene leucine-rich repeat kinase 2 (LRRK2) have been recently identified in families with Parkinson's disease (PD). However, the prevalence and nature of LRRK2 mutations, the polymorphism content of the gene, and the associated phenotypes remain poorly understood. We performed a comprehensive study of this gene in a large sample of families with Parkinson's disease compatible with autosomal...

Topics

Adult
Aged
Alternative Splicing
Amino Acid Sequence
Animals
Disease Progression
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Family Health

Female

Genes, Dominant

Genetic Testing

Genotype

Heterozygote

Humans

Leucine-Rich Repeat Serine-Threonine Protein Kinase-2

Male

Middle Aged

Models, Genetic

Source

Open in PubMed

Identifiers

PMID: 16333314
DOI: 10.1038/sj.ejhg.5201539

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-16333314-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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