PINK1 Mutations in a Brazilian Cohort of Early-Onset Parkinson's Disease Patients

PINK1 Mutations in a Brazilian Cohort of Early-Onset Parkinson's Disease Patients

Author Godeiro-Junior, Clecio Autor UNIFESP Google Scholar
Carvalho-Aguiar, Patricia M. de Autor UNIFESP Google Scholar
Felicio, Andre C. Autor UNIFESP Google Scholar
Barsottini, Orlando G. P. Autor UNIFESP Google Scholar
Silva, Sonia M. A. Autor UNIFESP Google Scholar
Borges, Vanderci Autor UNIFESP Google Scholar
Andrade, Luiz Augusto Franco de Autor UNIFESP Google Scholar
Ferraz, Henrique Ballalai Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Hosp Israelita Albert Einstein
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. (C) 2009 Movement Disorder Society
Keywords Parkinson's disease
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Date 2009-08-15
Published in Movement Disorders. Hoboken: Wiley-liss, v. 24, n. 11, p. 1693-1696, 2009.
ISSN 0885-3185 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 1693-1696
Access rights Closed access
Type Article
Web of Science ID WOS:000269931800020

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