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

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dc.contributor.authorCarvalho Aguiar, Patricia de [UNIFESP]
dc.contributor.authorLessa, Patricia Silva [UNIFESP]
dc.contributor.authorGodeiro Junior, Clecio [UNIFESP]
dc.contributor.authorBarsottini, Orlando [UNIFESP]
dc.contributor.authorFelicio, Andre Carvalho [UNIFESP]
dc.contributor.authorBorges, Vanderci [UNIFESP]
dc.contributor.authorAzevedo Silva, Sonia Maria de [UNIFESP]
dc.contributor.authorSaba, Roberta Arb [UNIFESP]
dc.contributor.authorFerraz, Henrique Ballalai [UNIFESP]
dc.contributor.authorMoreira-Filho, Carlos A. [UNIFESP]
dc.contributor.authorAndrade, Luiz Augusto Franco de [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T13:51:33Z
dc.date.available2016-01-24T13:51:33Z
dc.date.issued2008-07-15
dc.description.abstractParkinson'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.description.affiliationUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Inst Radiol Hosp Clin, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, ICB, Dept Immunol, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Inst Radiol Hosp Clin, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, ICB, Dept Immunol, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent1228-1233
dc.identifierhttp://dx.doi.org/10.1002/mds.22032
dc.identifier.citationMovement Disorders. Hoboken: Wiley-liss, v. 23, n. 9, p. 1228-1233, 2008.
dc.identifier.doi10.1002/mds.22032
dc.identifier.issn0885-3185
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/30800
dc.identifier.wosWOS:000258421800005
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofMovement Disorders
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectParkinson's diseaseen
dc.subjectgeneticsen
dc.subjectPARK2en
dc.subjectPARK8en
dc.subjectenvironmenten
dc.subjectpolymorphismen
dc.titleGenetic and environmental findings in early-onset Parkinson's disease Brazilian patientsen
dc.typeinfo:eu-repo/semantics/article
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