title: A study of LRRK2 mutations and Parkinson's disease in Brazil.
abstract: Mutations in the Leucine-rich repeat kinase 2 (LRRK2) gene are known as a common cause of Parkinson's disease (PD) among patients from different geographic origins. In this study, we evaluated the prevalence of LRRK2 mutations in exons 31 and 41 in a cohort of 154 consecutive, unrelated Brazilian patients with familial or sporadic PD, including early and late onset patients. The LRRK2 p.G2019S mutation was present in heterozygous state in three index cases (approximately 2%), and in three additional relatives. No carriers of this mutation were found among 250 control chromosomes. Clinically, all mutation-positive patients presented a typical PD phenotype and a good response to levodopa. Mutation segregation analysis in a large sibling showed incomplete penetrance of the p.G2019S. Our findings suggest that the LRRK2 p.G2019S mutation has a substantial contribution to PD susceptibility among Brazilian population and add new clues to current research of this disease.
authors.affiliation: Serviço de Genética Humana, Departamento de Biologia Celular e Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, RJ, Brazil. pimentel@uerj.br
authors.forename: Márcia Mattos Gonçalves
authors.initials: MM
authors.lastname: Pimentel
authors.forename: Karla Cristina Vasconcelos
authors.initials: KC
authors.lastname: Moura
authors.forename: Cláudia Bueno
authors.initials: CB
authors.lastname: Abdalla
authors.forename: João Santos
authors.initials: JS
authors.lastname: Pereira
authors.forename: Ana Lúcia Zuma
authors.initials: AL
authors.lastname: de Rosso
authors.forename: Denise Hack
authors.initials: DH
authors.lastname: Nicaretta
authors.forename: Mário
authors.initials: M
authors.lastname: Campos
authors.forename: Richard Morais
authors.initials: RM
authors.lastname: de Almeida
authors.forename: Jussara Mendonça
authors.initials: JM
authors.lastname: dos Santos
authors.forename: Izabel Cristina Constantino
authors.initials: IC
authors.lastname: Bastos
authors.forename: Maria Filomena Xavier
authors.initials: MF
authors.lastname: Mendes
authors.forename: Henryk
authors.initials: H
authors.lastname: Maultasch
authors.forename: Flavio Henrique de Rezende
authors.initials: FH
authors.lastname: Costa
authors.forename: Antônio Luiz dos Santos
authors.initials: AL
authors.lastname: Werneck
authors.forename: Cíntia Barros
authors.initials: CB
authors.lastname: Santos-Rebouças
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000978:Antiparkinson Agents / Q000627:therapeutic use; D001938:Brazil / Q000453:epidemiology; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D000978:Antiparkinson Agents; D005819:Genetic Markers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases