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PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients

Authors

  • Clecio Godeiro-Junior MD,

    Corresponding author
    1. Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo-SP, Brazil
    2. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
    • Rua Napoleão de Barros, 566, ap. 93, São Paulo, São Paulo, Brazil 04024-002
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  • Patricia M. de Carvalho-Aguiar MD, PhD,

    1. Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo-SP, Brazil
    2. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
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  • Andre C. Felício MD,

    1. Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo-SP, Brazil
    2. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
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  • Orlando G.P. Barsottini MD, PhD,

    1. Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo-SP, Brazil
    2. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
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  • Sonia M.A. Silva MD, PhD,

    1. Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo-SP, Brazil
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  • Vanderci Borges MD, PhD,

    1. Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo-SP, Brazil
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  • Luiz Augusto F. Andrade MD, PhD,

    1. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
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  • Henrique Ballalai Ferraz MD, PhD

    1. Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo-SP, Brazil
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  • Potential conflict of interest: Nothing to report.

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. © 2009 Movement Disorder Society

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