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Title: PINK1 Mutations in a Brazilian Cohort of Early-Onset Parkinson's Disease Patients
Authors: Godeiro-Junior, Clecio [UNIFESP]
Carvalho-Aguiar, Patricia M. de [UNIFESP]
Felicio, Andre C. [UNIFESP]
Barsottini, Orlando G. P. [UNIFESP]
Silva, Sonia M. A. [UNIFESP]
Borges, Vanderci [UNIFESP]
Andrade, Luiz Augusto Franco de [UNIFESP]
Ferraz, Henrique Ballalai [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Hosp Israelita Albert Einstein
Keywords: Parkinson's disease
Issue Date: 15-Aug-2009
Publisher: Wiley-Blackwell
Citation: Movement Disorders. Hoboken: Wiley-liss, v. 24, n. 11, p. 1693-1696, 2009.
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
ISSN: 0885-3185
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