Please use this identifier to cite or link to this item: http://hdl.handle.net/10316/11825
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dc.contributor.authorGuerreiro, Rita J.-
dc.contributor.authorBrás, José M.-
dc.contributor.authorSantana, Isabel-
dc.contributor.authorJanuário, Cristina-
dc.contributor.authorSantiago, Beatriz-
dc.contributor.authorMorgadinho, Ana S.-
dc.contributor.authorRibeiro, Maria H.-
dc.contributor.authorHardy, John-
dc.contributor.authorSingleton, Andrew-
dc.contributor.authorOliveira, Catarina-
dc.date.accessioned2009-10-27T13:40:34Z-
dc.date.available2009-10-27T13:40:34Z-
dc.date.issued2006-
dc.identifier.citationBMC Neurology. 6 (2006)en_US
dc.identifier.issn1471-2377-
dc.identifier.urihttp://hdl.handle.net/10316/11825-
dc.description.abstractBackground: Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD) and Parkinson diseases (PD). Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886), and mutations in HFE are a cause of the iron mismetabolism disease, hemochromatosis. Several reports have tested the association of HFE variants with neurodegenerative diseases, such as AD and PD with conflicting results. Methods: Genotypes were analysed for the two most common variants of HFE in a series of 130 AD, 55 Mild Cognitive Impairment (MCI) and 132 PD patients. Additionally, a series of 115 healthy age-matched controls was also screened. Results: A statistically significant association was found in the PD group when compared to controls, showing that the presence of the C282Y variant allele may confer higher risk for developing the disease. Conclusion: Taken together these results suggest that the common variants in HFE may be a risk factor for PD, but not for AD in the Portuguese population.en_US
dc.language.isoengen_US
dc.publisherBioMedCentralen_US
dc.rightsopenAccessen_US
dc.titleAssociation of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohorten_US
dc.typearticleen_US
dc.identifier.doi10.1186/1471-2377-6-24-
item.grantfulltextopen-
item.fulltextCom Texto completo-
item.languageiso639-1en-
crisitem.author.researchunitCNC.IBILI-
crisitem.author.orcid0000-0002-8114-9434-
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
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