title: LRRK2 p.G2019S mutation is not common among Alzheimer's disease patients in Brazil.
abstract: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have emerged as a potential common cause for both sporadic and familial Parkinson's Disease (PD) in different populations. The pleomorphic features exhibited by LRRK2 mutation carriers and the central role of Lrrk2 protein in the proper functioning of central nervous system suggest that mutations in this protein might be involved in multiple cellular processes leading to other neurodegenerative disorders than PD. The location of LRRK2 gene on chromosome 12, close to a linkage peak for familial late-onset Alzheimer's Disease (AD), highlights that LRRK2 mutations might be involved in AD pathogenesis. We screened the most common LRRK2 mutation (p.G2019S) in a series of 180 consecutive patients clinically diagnosed with Alzheimer Disease (AD). We identified the p.G2019S in one AD patient with no PD signs, indicating that this mutation is not a common etiological factor for AD in our population (0.5%), corroborating recent data found in Norwegian, North American, Chinese and Italian populations. Nevertheless, these observations together with new information about the Lrrk2 critical multifunctionality do not rule out the possible influence of other variants within LRRK2 in AD, so that other screenings focusing in the whole extension of the LRRK2 using larger sized confirmed AD sample are urgently needed.
authors.affiliation: Departamento de Genética, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
authors.forename: Cíntia Barros
authors.initials: CB
authors.lastname: Santos-Rebouças
authors.forename: Cláudia Bueno
authors.initials: CB
authors.lastname: Abdalla
authors.forename: Paloma Aguia
authors.initials: PA
authors.lastname: Martins
authors.forename: Fábio José Rodrigues
authors.initials: FJ
authors.lastname: Baldi
authors.forename: Jussara Mendonça
authors.initials: JM
authors.lastname: Santos
authors.forename: Luciana Branco
authors.initials: LB
authors.lastname: Motta
authors.forename: Margarete Borges
authors.initials: MB
authors.lastname: de Borges
authors.forename: Dorotéia Rossi Silva
authors.initials: DR
authors.lastname: Souza
authors.forename: Marcela Augusta
authors.initials: MA
authors.lastname: de Souza Pinhel
authors.forename: Jerson
authors.initials: J
authors.lastname: Laks
authors.forename: Márcia Mattos Gonçalves
authors.initials: MM
authors.lastname: Pimentel
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D001938:Brazil / Q000453:epidemiology; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D004247:DNA; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases