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Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

2009Journal article Open access
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dc.contributor.authorBrás, JM
dc.contributor.authorPaisan-Ruiz, C
dc.contributor.authorGuerreiro, C
dc.contributor.authorRibeiro, MH
dc.contributor.authorMorgadinho, A
dc.contributor.authorJanuário, C
dc.contributor.authorSidransky, E
dc.contributor.authorOliveira, CR
dc.contributor.authorSingleton, A
dc.date.accessioned2010-12-15T16:42:22Z
dc.date.available2010-12-15T16:42:22Z
dc.date.issued2009
dc.description.abstractMutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a cohort of Portuguese Parkinson disease patients and healthy age-matched controls for mutations in the aforementioned gene. This screening was accomplished by sequencing the complete open-reading frame, as well as intron/exon boundaries, of the glucocerebrosidase gene, in a total of 230 patients and 430 controls. We have found an increased number of Parkinson disease patients presenting mutations in GBA when compared to controls. These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease.por
dc.identifier.citationNeurobiol Aging. 2009 Sep;30(9):1515-7.por
dc.identifier.urihttp://hdl.handle.net/10400.4/896
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherElsevierpor
dc.subjectDoença de Parkinsonpor
dc.subjectPredisposição Genética para Doençapor
dc.subjectGlucosilceramidasepor
dc.titleComplete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugalpor
dc.typejournal article
dspace.entity.typePublication
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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