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      Magnetic ressonance imaging in the diagnosis of Creutzfeldt-Jakob disease: Report of two cases Translated title: Ressonância magnética no diagnóstico da doença de Creutzfeldt-Jakob: Relato de dois casos

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          Abstract

          Creutzfeldt-Jacob disease (CJD) is a rare condition caused by a pathogenic prion protein that evolves with rapidly progressive dementia and death. The clinical presentation may sometimes be misleading. Magnetic Resonance Imaging (MRI) aids diagnosis with patterns that can guide or confirm clinical hypotheses. Two cases of rapidly progressive dementia with ataxia, myoclonus and restricted diffusion on MRI in cortical/basal ganglia are presented to draw attention to CJD.

          Translated abstract

          Doença de Creutzfeldt-Jacob (CJD) é uma rara doença relacionada a uma proteína priônica patogênica que evolui com demência rapidamente progressiva e morte. Por vezes, a apresentação clínica é inespecífica e desafiadora. A ressonância magnética contribui para o diagnóstico com padrões de imagem que podem orientar ou confirmar as hipóteses diagnósticas baseadas na clínica. Serão apresentados dois casos de pacientes com a forma esporádica da doença.

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          Most cited references19

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          Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.

          Phenotypic heterogeneity in sporadic Creutzfeldt-Jakob disease (sCJD) is well documented, but there is not yet a systematic classification of the disease variants. In a previous study, we showed that the polymorphic codon 129 of the prion protein gene (PRNP), and two types of protease-resistant prion protein (PrP(Sc)) with distinct physicochemical properties, are major determinants of these variants. To define the full spectrum of variants, we have examined a series of 300 sCJD patients. Clinical features, PRNP genotype, and PrP(Sc) properties were determined in all subjects. In 187, we also studied neuropathological features and immunohistochemical pattern of PrP(Sc) deposition. Seventy percent of subjects showed the classic CJD phenotype, PrP(Sc) type 1, and at least one methionine allele at codon 129; 25% of cases displayed the ataxic and kuru-plaque variants, associated to PrP(Sc) type 2, and valine homozygosity or heterozygosity at codon 129, respectively. Two additional variants, which included a thalamic form of CJD and a phenotype characterized by prominent dementia and cortical pathology, were linked to PrP(Sc) type 2 and methionine homozygosity. Finally, a rare phenotype characterized by progressive dementia was linked to PrP(Sc) type 1 and valine homozygosity. The present data demonstrate the existence of six phenotypic variants of sCJD. The physicochemical properties of PrP(Sc) in conjunction with the PRNP codon 129 genotype largely determine this phenotypic variability, and allow a molecular classification of the disease variants.
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            Sporadic human prion diseases: molecular insights and diagnosis.

            Human prion diseases can be sporadic, inherited, or acquired by infection. Distinct clinical and pathological characteristics separate sporadic diseases into three phenotypes: Creutzfeldt-Jakob disease (CJD), fatal insomnia, and variably protease-sensitive prionopathy. CJD accounts for more than 90% of all cases of sporadic prion disease; it is commonly categorised into five subtypes that can be distinguished according to leading clinical signs, histological lesions, and molecular traits of the pathogenic prion protein. Three subtypes affect prominently cognitive functions whereas the other two impair cerebellar motor activities. An accurate and timely diagnosis depends on careful clinical examination and early performance and interpretation of diagnostic tests, including electroencephalography, quantitative assessment of the surrogate markers 14-3-3, tau, and of the prion protein in the CSF, and neuroimaging. The reliability of CSF tests is improved when these tests are interpreted alongside neuroimaging data. Copyright © 2012 Elsevier Ltd. All rights reserved.
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              Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering.

              The worldwide epidemiology of Creutzfeldt-Jakob disease (CJD) is presented from an analysis of 1,435 patients. In the United States, the average annual mortality rate is at least 0.26 deaths per million. Temporal-spatial clustering of cases was not found in the United States, but reports from other countries indicate that such clustering does occur. Fifteen percent of the cases were of the familial type, suggesting a genetic susceptibility to infection. Iatrogenic transmission by corneal transplantation and neurosurgical operations has occurred, and the possibility is raised that previous surgery or preexisting neurological operations has occurred, and the possibility is raised that previous surgery or preexisting neurological disease may be associated with an increased risk of developing CJD. It remains to be determined whether the virus of CJD is maintained only by patient-to-patient transmission, has a zoonotic reservoir such as scrapie, or causes widespread latent infection of man that is occasionally activated.
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                Author and article information

                Journal
                Dement Neuropsychol
                Dement Neuropsychol
                dn
                Dementia & Neuropsychologia
                Associação de Neurologia Cognitiva e do Comportamento
                1980-5764
                Oct-Dec 2015
                Oct-Dec 2015
                : 9
                : 4
                : 424-427
                Affiliations
                [1 ]Setor de Neurorradiologia Diagnóstica. Instituto de Radiologia do Hospital das Clínicas da Faculdade de Medicina da USP.
                Author notes
                Leandro Tavares Lucato. Hospital das Clínicas da Faculdade de Medicina da USP / Instituto de Radiologia / Ressonância Magnética. – Av. Dr. Enéas de Carvalho Aguiar 255 – 05403010 São Paulo SP – Brasil.
                Article
                10.1590/1980-57642015DN94000424
                5619326
                3d2e3640-0e94-4b18-8607-df9a90ae6f25

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 15 August 2015
                : 30 October 2015
                Categories
                Case Report

                creutzfeldt-jakob disease,prionic disease,rapidly progressive dementia,mri,diffusion,dwi,basal ganglia,cortex

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