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

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dc.contributor.author Carvalho Aguiar, Patricia de [UNIFESP]
dc.contributor.author Lessa, Patricia Silva [UNIFESP]
dc.contributor.author Godeiro Junior, Clecio [UNIFESP]
dc.contributor.author Barsottini, Orlando [UNIFESP]
dc.contributor.author Felicio, Andre Carvalho [UNIFESP]
dc.contributor.author Borges, Vanderci [UNIFESP]
dc.contributor.author Azevedo Silva, Sonia Maria de [UNIFESP]
dc.contributor.author Saba, Roberta Arb [UNIFESP]
dc.contributor.author Ferraz, Henrique Ballalai [UNIFESP]
dc.contributor.author Moreira-Filho, Carlos A. [UNIFESP]
dc.contributor.author Andrade, Luiz Augusto Franco de [UNIFESP]
dc.date.accessioned 2016-01-24T13:51:33Z
dc.date.available 2016-01-24T13:51:33Z
dc.date.issued 2008-07-15
dc.identifier http://dx.doi.org/10.1002/mds.22032
dc.identifier.citation Movement Disorders. Hoboken: Wiley-liss, v. 23, n. 9, p. 1228-1233, 2008.
dc.identifier.issn 0885-3185
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/30800
dc.description.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 Va1380Leu 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 Va1380Leu might be interacting with environmental factors acting as a disease modifier. (C) 2008 Movement Disorder Society. en
dc.format.extent 1228-1233
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.relation.ispartof Movement Disorders
dc.rights Acesso restrito
dc.subject Parkinson's disease en
dc.subject genetics en
dc.subject PARK2 en
dc.subject PARK8 en
dc.subject environment en
dc.subject polymorphism en
dc.title Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients en
dc.type Artigo
dc.rights.license http://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Universidade Federal de São Paulo, Dept Neurol & Neurosurg, São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Inst Radiol Hosp Clin, São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, ICB, Dept Immunol, São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Neurol & Neurosurg, São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Inst Radiol Hosp Clin, São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, ICB, Dept Immunol, São Paulo, Brazil
dc.identifier.doi 10.1002/mds.22032
dc.description.source Web of Science
dc.identifier.wos WOS:000258421800005



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