Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients

Authors

  • Patricia de Carvalho Aguiar MD, PhD,

    Corresponding author
    1. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
    2. Department of Neurology and Neurosurgery-Universidade Federal de São Paulo, São Paulo-SP, Brazil
    • Rua Bela Cintra, 67 apt 117, São Paulo-SP, Brazil 01415-000
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  • Patricia Silva Lessa PhD,

    1. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
    2. Neuroimagem Funcional/LIM44-Instituto de Radiologia do Hospital das Clínicas-Universidade de São Paulo, São Paulo-SP, Brazil
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  • Clecio Godeiro Junior MD,

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

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

    1. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
    2. Department of Neurology and Neurosurgery-Universidade Federal de São Paulo, São Paulo-SP, Brazil
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  • Vanderci Borges MD,

    1. Department of Neurology and Neurosurgery-Universidade Federal de São Paulo, São Paulo-SP, Brazil
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  • Sonia Maria de Azevedo Silva MD, PhD,

    1. Department of Neurology and Neurosurgery-Universidade Federal de São Paulo, São Paulo-SP, Brazil
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  • Roberta Arb Saba MD,

    1. Department of Neurology and Neurosurgery-Universidade Federal de São Paulo, São Paulo-SP, Brazil
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  • Henrique Ballalai Ferraz MD, PhD,

    1. Department of Neurology and Neurosurgery-Universidade Federal de São Paulo, São Paulo-SP, Brazil
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  • Carlos A. Moreira-Filho PhD,

    1. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
    2. Department of Immunology-ICB-Universidade 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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Abstract

Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early-onset PD (EOPD) patients for mutations in PARK2 and PARK8, exposure to environmental factors and possible correlations between PARK2 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Val380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. In patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier. © 2008 Movement Disorder Society

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