title: Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson's disease.
abstract: Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients.
  
  
  METHODS
  We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR).
  
  
  RESULTS
  No G2019S mutations were found in both patients with sporadic PD and controls.
  
  
  CONCLUSIONS
  Our results may be explained by the relatively small sample size.
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Hsin Fen
authors.initials: HF
authors.lastname: Chien
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Tamires Rocha
authors.initials: TR
authors.lastname: Figueiredo
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Marianna Almeida
authors.initials: MA
authors.lastname: Hollaender
authors.affiliation: Laboratório de Genética Molecular, Instituto de Biociências, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Fabiano
authors.initials: F
authors.lastname: Tofoli
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Leonel Takao
authors.initials: LT
authors.lastname: Takada
authors.affiliation: Laboratório de Genética Molecular, Instituto de Biociências, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Lygia da Veiga
authors.initials: Lda V
authors.lastname: Pereira
authors.affiliation: Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Egberto Reis
authors.initials: ER
authors.lastname: Barbosa
mesh_terms: D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D059645:Mutation Rate; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases