title: PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients.
abstract: Data on the frequency of PINK1 mutations in Brazilian patients with early-onset Parkinson's disease (EOPD) are lacking. The aim of this report was to investigate mutations of the PINK1 gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD patients were included. All eight PINK1 exons and exon-intron boundaries were analyzed. We did not find any pathogenic mutation of PINK1 in our cohort. Single Nucleotide Polymorphisms (SNP) were identified in 46.7% of the patients and in 45.9% of controls (P = 0.9). The SNPs identified in our patients had already been described in previous reports. The results of our study support the hypothesis that mutations in PINK1 may not be a relevant cause of EOPD. In Brazil, if we consider only EOPD patients, it seems that parkin and LRRK2 mutations are more common.
authors: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, SP, Brazil. cleciojunior@yahoo.com.br
authors: Clecio
authors: C
authors: Godeiro-Junior
authors: Patricia M
authors: PM
authors: de Carvalho-Aguiar
authors: Andre C
authors: AC
authors: Felício
authors: Orlando G P
authors: OG
authors: Barsottini
authors: Sonia M A
authors: SM
authors: Silva
authors: Vanderci
authors: V
authors: Borges
authors: Luiz Augusto F
authors: LA
authors: Andrade
authors: Henrique Ballalai
authors: HB
authors: Ferraz
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001938:Brazil / Q000453:epidemiology; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D011494:Protein Kinases / Q000235:genetics* / Q000502:physiology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000502:physiology; D012307:Risk Factors; D044767:Ubiquitin-Protein Ligases / Q000235:genetics / Q000502:physiology; D000099202:PTEN-Induced Putative Kinase
chemical_list: D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein; C495280:LRRK2 protein, human