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      Doença de Creutzfeldt-Jakob forma Heidenhain: relato de caso com achados de ressonância magnética e DWI Translated title: Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings

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          Abstract

          A doença de Creutzfeldt-Jakob (CJD) é uma forma de demência pré-senil de rápida evolução, geralmente fatal em um ano. Casos autóctones no Brasil têm sido raramente descritos assim como achados de ressonância magnética. Mulher, natural de Ponta Grossa PR, branca , 54 anos , foi admitida no serviço em outubro de 2001 com quadro de amaurose bilateral cortical progressiva desde há 1 mês do internamento. Nunca viajou ao exterior e foi somente submetida a uma cirurgia de redução do estômago, para obesidade. História familial sem relato de casos semelhantes. Logo após o internamento a paciente desenvolveu quadro de disfasia mista, hemiparesia flácida direita, com movimentos coreoatetóticos e crises parciais motoras. Paciente evoluiu com quadro demencial progressivo; atualmente, acamada, torporosa, dependente de alimentação enteral, recebendo mepacrina, fenitoína e clorpromazina , estabilizando o quadro até final de maio de 2002. Exames laboratoriais negativos ou normais. Pesquisa de proteína 14-3-3 no líquor foi positiva; enolase-neurônio-específica no líquor foi normal. Estudo genético do gen PRNP não revelou mutação descrita anteriormente. EEG (23/10/2001) revelou intensa atividade irritativa hemisfério cerebral esquerdo. Estudo de ressonância magnética revelou áreas de hipersinal em T2 e FLAIR em regiões temporal esquerda e bioccipital; gânglios da base normal. Imagens de DWI mostraram hipersinal nas mesmas áreas.Outro EEG (15/03/2002) revelou padrão periódico de ondas trifásicas sugestivos de CJD. A paciente fez uso de mepacrina associado a clorpromazina com aparente estabilização do quadro, até seu óbito por complicações infecciosas pulmonares em abril de 2003.

          Translated abstract

          Creutzfeldt-Jakob disease (CJD) is a presenile dementia characterized by rapidly progressive mental deterioration, myoclonic jerking, and other less common neurological signs. Few autoctonous cases have been described in Brazil. A 54-year-old white woman, was admitted in our service with a month history of progressive, bilateral cortical blindness. After admission, she developed right partial motor seizures( right facial, upper and lower limbs), she became progressively aphasic( mixed aphasia). Seizures were controlled with phenytoin, but she developed choreoathetotic movements on her right dimidium, with partial control after introduction of chlorpromazine 25 mg q/d. She could no longer stand up or walk due to severe ataxia. The first EEG (October, 2001) showed left hemisphere severe seizure activity (status epilepticus partialis). She was delivered home with enteral nutrition, phenytoin , chlorpromazine and mepacrine 100 mg qd. The following laboratorial tests were negative or normal: blood series, platelets, ESR, kidney and liver function, copper, ceruloplasmin, VDRL, HIV, HTLV-1, lactate, and cerebral DSA (performed in other service).A spinal tap with normal opening pressure was perform and CSF examination was normal. CSF 14-3-3 protein was positive, CSF specific neuronal enolase 7.5 ng/ml(normal). Genetic study of PRNP gene did not disclosed any known mutation. A MRI (October, 2001) showed areas of hyperintense signal (T2 and FLAIR) without Gd-enhancement on T1, in the left temporal lobe and in both occipital lobes; basal ganglia have a normal appearance. DWI imaging showed bright areas at the same sites. An EEG (March, 2002) disclosed a periodical sharp triphasic waves pattern, suggestive of CJD. A second MRI (April, 2002) showed mild generalized atrophy, no ventricular dilatation, and the hyperintense sites disappeared. She remained clinically stable and under use of chlorpromazine and mepacrine until she died due to pulmonary complications on April, 2003.

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          Genetic and infectious prion diseases.

          S Prusiner (1993)
          Enriching fractions from Syrian hamster (SHa) brain for scrapie prion infectivity led to the discovery of the prion protein (PrP). Prion diseases include scrapie of sheep and bovine spongiform encephalopathy of cattle as well as Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker syndrome (GSS) of humans. Transgenic (Tg) mice expressing both SHa and mouse (Mo) PrP genes were used to probe the molecular basis of the species barrier and the mechanism of scrapie prion replication. Bioassays of brain extracts from two scrapie-infected Tg lines showed that the prion inoculum determines that prions are synthesized de novo, even though the cells express both PrP genes. Studies with artificial prions produced from chimeric Mo/SHaPrP transgenes underscore the concept that inoculated prion dictates which prion will be replicated. Discovery of mutations in the PrP genes of humans with GSS and familial CJD established that prion diseases are both genetic and infectious. Transgenic mice expressing high levels of MoPrP-P101L, corresponding to the GSS point mutation (P102L) in human PrP, spontaneously develop neurologic dysfunction, spongiform degeneration, and astrocytic gliosis. Inoculation of brain extracts prepared from these Tg (MoPrP-P101L) mice produced neurodegeneration in recipient animals after prolonged incubation times. These results are in accord with those of other studies and argue that prions are devoid of foreign nucleic acid. Structural investigations of cellular prion protein (PrPC) and prion protein scrapie (PrPSc) suggest that the difference may be conformational. Conditions that diminished the beta-sheet content of PrPSc were the same as those identified previously that inactivate prion infectivity. Whether prion diversity as reflected by distinct "strains" producing different patterns of PrPSc accumulation is due to different conformers of PrPSc remains to be established. Advances in the purification and characterization of both PrPC and PrPSc seem to have identified the central event in PrPSc synthesis and prion propagation, ie, the unfolding of PrPC followed by its refolding into PrPSc. These findings underscore the fundamental features of prion structure and propagation that differentiate prions from other transmissible pathogens.
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            Creutzfeldt-Jakob disease.

            Creutzfeldt-Jakob disease (CJD), a neurodegenerative disorder that is the commonest form of human prion disease or transmissible spongiform encephalopathies (TSEs). Four types of CJD are known: Sporadic (sCJD), familial or genetic (gCJD); iatrogenic (iCJD) and variant CJD (vCJD). The latter results from transmission of bovine spongiform encephalopathy (BSE) from cattle to humans. The combination of PrP(Sc) peptide (either 21 kDa or 19 kDa) and the status of the codon 129 of the gene (PRNP) encoding for PrP (either Methionine or Valine) is used to classify sCJD into 6 types: MM1 and MV1, the most common; VV2; MV2 (Brownell/Oppenheimer syndrome); MM2; VV1 and sporadic fatal insomnia, in that order of prevalence. Genetic CJD is caused by diverse mutations in the PRNP gene. The neuropathology of CJD consists of spongiform change, astro- and microgliosis and poorly defined neuronal loss. In a proportion of cases, amyloid plaques, like those of kuru, are seen. PrP immunohistochemistry reveals different types of PrP(Sc) deposits - the most common is the synaptic-type, but perivacuolar, perineuronal and plaque-like deposits may be also detected.
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              THE ELECTROENCEPHALOGRAM IN DIFFUSE ENCEPHALOPATHIES: ELECTROENCEPHALOGRAPHIC CORRELATES OF GREY AND WHITE MATTER LESIONS

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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                anp
                Arquivos de Neuro-Psiquiatria
                Arq. Neuro-Psiquiatr.
                Academia Brasileira de Neurologia - ABNEURO (São Paulo )
                1678-4227
                June 2004
                : 62
                : 2a
                : 347-352
                Affiliations
                [1 ] Instituto de Neurologia de Curitiba Brazil
                Article
                S0004-282X2004000200029
                10.1590/S0004-282X2004000200029
                abdbeb64-aa17-444a-9845-e8cdbd860f08

                http://creativecommons.org/licenses/by/4.0/

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                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=0004-282X&lng=en
                Categories
                NEUROSCIENCES
                PSYCHIATRY

                Neurosciences,Clinical Psychology & Psychiatry
                dementia,prion,Creutzfeldt-Jakob disease,demência,príon,doença de Creutztfeldt-Jakob

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