SciELO - Scientific Electronic Library Online

vol.1 issue4New variant of Creutzfeldt-Jakob (vCJD) disease and other human prion diseases under epidemiological surveillance in BrazilClinicopathological correlates of Alzheimer's disease in a general autopsy series from Brazil author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Dementia & Neuropsychologia

Print version ISSN 1980-5764


MARTINS, Vilma Regina et al. Prion diseases are under compulsory notification in Brazil: Surveillance of cases evaluated by biochemical and/or genetic markers from 2005 to 2007. Dement. neuropsychol. [online]. 2007, vol.1, n.4, pp.347-355. ISSN 1980-5764.

The emergence of the new variant of Creutzfeldt-Jakob disease (vCJD) in the United Kingdom has raised concerns over the risks of this prion disease in other parts of the world. Since 2005, human prion diseases have been under compulsory notification in Brazil. It is well known that some polymorphisms within the cellular prion gene (PRNP) have been associated to a higher susceptibility to sporadic CJD (sCJD) and vCJD. Objectives: To describe the first notified cases and to evaluate the presence of mutations and polymorphisms of the PRNP in these cases. Methods: Thirty-five notified cases were evaluated by clinical, auxiliary exams and biochemical and/or genetic tests and classified according to the World Health Organization criteria for CJD. A control group (N=202) was included for the purpose of comparing the genetic analyses. Results: Twenty seven cases (74%) were classified as possible sCJD while 51% fulfilled the criteria for probable sCJD. Brain tissue analysis was available in three cases, where two were classified as definite sCJD and one as unconfirmed sCJD. Mutation of the PRNP was not found, and regarding the codon 129 polymorphism, valine in both alleles (Val129Val) was more frequent in patients than in the control group (OR=4.98; 1.55-15.96; p=0.007) when all possible cases were included, but not when only probable cases were considered. Conclusions: Our data did not show correlation of PRNP polymorphisms with probable sCJD cases. It is necessary to work toward notification of all cases of possible CJD in Brazil and to increase the rate of definitive diagnoses.

Keywords : prion; prion diseases; transmissible spongiform encephalopathy; Creutzfeldt-Jakob disease; genetic polymorphism.

        · abstract in Portuguese     · text in English     · English ( pdf )