Produção Nacional
Revisado por pares
PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients
2009; Wiley; Volume: 24; Issue: 11 Linguagem: Inglês
10.1002/mds.22685
ISSN1531-8257
AutoresClécio Godeiro‐Júnior, Patrícia de Carvalho Aguiar, André C. Felício, Orlando Graziani Póvoas Barsottini, Sônia M.A. Silva, Vanderci Borges, Luiz Augusto Franco de Andrade, Henrique Ballalai Ferraz,
Tópico(s)Lysosomal Storage Disorders Research
ResumoAbstract 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. © 2009 Movement Disorder Society
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