title: Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson's disease patients.
abstract: BACKGROUND
  The pathogenesis of Parkinson's disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD).
  
  
  METHODS
  A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05.
  
  
  RESULTS
  Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals.
  
  
  CONCLUSIONS
  SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.
authors.affiliation: Faculdade de Medicina de São José do Rio Preto, Sao José do Rio Preto, SP, Brazil.
authors.forename: Gabriela S
authors.initials: GS
authors.lastname: Longo
authors.affiliation: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Marcela A S
authors.initials: MA
authors.lastname: Pinhel
authors.affiliation: Universidade de Franca, Franca, SP, Brazil.
authors.forename: Michele L
authors.initials: ML
authors.lastname: Gregório
authors.affiliation: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Bruno A P
authors.initials: BA
authors.lastname: Oliveira
authors.affiliation: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Driele C G
authors.initials: DC
authors.lastname: Quinhoneiro
authors.affiliation: Faculdade de Medicina de São José do Rio Preto, Sao José do Rio Preto, SP, Brazil.
authors.forename: Waldir A
authors.initials: WA
authors.lastname: Tognola
authors.affiliation: Faculdade de Medicina de São José do Rio Preto, Sao José do Rio Preto, SP, Brazil.
authors.forename: Fábio N
authors.initials: FN
authors.lastname: Oliveira
authors.forename: Denise Poltronieri
authors.initials: DP
authors.lastname: Martins
authors.affiliation: Faculdade de Medicina de São José do Rio Preto, Sao José do Rio Preto, SP, Brazil.
authors.forename: Sabrina M
authors.initials: SM
authors.lastname: Cezario
authors.affiliation: Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Caroline L
authors.initials: CL
authors.lastname: Sado
authors.affiliation: Faculdade de Medicina de São José do Rio Preto, Sao José do Rio Preto, SP, Brazil.
authors.forename: Marcelo A
authors.initials: MA
authors.lastname: Nakazone
authors.affiliation: Faculdade de Medicina de São José do Rio Preto, Sao José do Rio Preto, SP, Brazil.
authors.forename: Maria C J
authors.initials: MC
authors.lastname: Calastri
authors.affiliation: Faculdade de Medicina de São José do Rio Preto, Sao José do Rio Preto, SP, Brazil.
authors.forename: Dorotéia R S
authors.initials: DR
authors.lastname: Souza
mesh_terms: D000328:Adult; D000368:Aged; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*; D012737:Sex Factors; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: D051844:alpha-Synuclein