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[PMID]:27011963
[Au] Autor:Roos RP
[Ti] Título:D. CARLETON GAJDUSEK.
[So] Source:Proc Am Philos Soc;159(1):97-106, 2015 Mar.
[Is] ISSN:0003-049X
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Antropologia/história
Kuru/história
Neuropatologia/história
[Mh] Termos MeSH secundário: História do Século XX
História do Século XXI
[Pt] Tipo de publicação:BIOGRAPHY; HISTORICAL ARTICLE; JOURNAL ARTICLE; PORTRAITS
[Ps] Nome de pessoa como assunto:Gajdusek DC
[Em] Mês de entrada:1604
[Cu] Atualização por classe:160325
[Lr] Data última revisão:
160325
[Sb] Subgrupo de revista:QIS
[Da] Data de entrada para processamento:160326
[St] Status:MEDLINE


  2 / 550 MEDLINE  
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[PMID]:26061765
[Au] Autor:Asante EA; Smidak M; Grimshaw A; Houghton R; Tomlinson A; Jeelani A; Jakubcova T; Hamdan S; Richard-Londt A; Linehan JM; Brandner S; Alpers M; Whitfield J; Mead S; Wadsworth JD; Collinge J
[Ad] Endereço:MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London WC1N 3BG, UK.
[Ti] Título:A naturally occurring variant of the human prion protein completely prevents prion disease.
[So] Source:Nature;522(7557):478-81, 2015 Jun 25.
[Is] ISSN:1476-4687
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mammalian prions, transmissible agents causing lethal neurodegenerative diseases, are composed of assemblies of misfolded cellular prion protein (PrP). A novel PrP variant, G127V, was under positive evolutionary selection during the epidemic of kuru--an acquired prion disease epidemic of the Fore population in Papua New Guinea--and appeared to provide strong protection against disease in the heterozygous state. Here we have investigated the protective role of this variant and its interaction with the common, worldwide M129V PrP polymorphism. V127 was seen exclusively on a M129 PRNP allele. We demonstrate that transgenic mice expressing both variant and wild-type human PrP are completely resistant to both kuru and classical Creutzfeldt-Jakob disease (CJD) prions (which are closely similar) but can be infected with variant CJD prions, a human prion strain resulting from exposure to bovine spongiform encephalopathy prions to which the Fore were not exposed. Notably, mice expressing only PrP V127 were completely resistant to all prion strains, demonstrating a different molecular mechanism to M129V, which provides its relative protection against classical CJD and kuru in the heterozygous state. Indeed, this single amino acid substitution (G→V) at a residue invariant in vertebrate evolution is as protective as deletion of the protein. Further study in transgenic mice expressing different ratios of variant and wild-type PrP indicates that not only is PrP V127 completely refractory to prion conversion but acts as a potent dose-dependent inhibitor of wild-type prion propagation.
[Mh] Termos MeSH primário: Polimorfismo Genético/genética
Doenças Priônicas/genética
Doenças Priônicas/prevenção & controle
Príons/genética
Príons/metabolismo
[Mh] Termos MeSH secundário: Alelos
Substituição de Aminoácidos/genética
Animais
Bovinos
Síndrome de Creutzfeldt-Jakob/genética
Síndrome de Creutzfeldt-Jakob/prevenção & controle
Encefalopatia Espongiforme Bovina/genética
Feminino
Heterozigoto
Homozigoto
Seres Humanos
Kuru/epidemiologia
Kuru/genética
Kuru/prevenção & controle
Camundongos
Camundongos Transgênicos
Papua Nova Guiné/epidemiologia
Proteínas PrPSc/química
Proteínas PrPSc/genética
Proteínas PrPSc/metabolismo
Doenças Priônicas/epidemiologia
Doenças Priônicas/transmissão
Príons/química
Príons/farmacologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (PrPSc Proteins); 0 (Prions)
[Em] Mês de entrada:1507
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150611
[St] Status:MEDLINE
[do] DOI:10.1038/nature14510


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[PMID]:25783686
[Au] Autor:Berghoff AS; Trummert A; Unterberger U; Ströbel T; Hortobágyi T; Kovacs GG
[Ad] Endereço:Institute of Neurology and Austrian Reference Center for Human Prion Diseases, Medical University of Vienna, Vienna, Austria.
[Ti] Título:Atypical sporadic CJD-MM phenotype with white matter kuru plaques associated with intranuclear inclusion body and argyrophilic grain disease.
[So] Source:Neuropathology;35(4):336-42, 2015 Aug.
[Is] ISSN:1440-1789
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:We describe an atypical neuropathological phenotype of sporadic Creutzfeldt-Jakob disease in a 76-year-old man. The clinical symptoms were characterized by progressive dementia, gait ataxia, rigidity and urinary incontinence. The disease duration was 6 weeks. MRI did not show prominent atrophy or hyperintensities in cortical areas, striatum or thalamus. Biomarker examination of the cerebrospinal fluid deviated from that seen in pure Alzheimer's disease. Triphasic waves in the EEG were detected only later in the disease course, while 14-3-3 assay was positive. PRNP genotyping revealed methionine homozygosity (MM) at codon 129. Neuropathology showed classical CJD changes corresponding to the MM type 1 cases. However, a striking feature was the presence of abundant kuru-type plaques in the white matter. This rare morphology was associated with neuropathological signs of intranuclear inclusion body disease and advanced stage of argyrophilic grain disease. These alterations did not show correlation with each other, thus seemed to develop independently. This case further highlights the complexity of neuropathological alterations in the ageing brain.
[Mh] Termos MeSH primário: Encéfalo/patologia
Síndrome de Creutzfeldt-Jakob/patologia
Encefalopatia Espongiforme Bovina/patologia
Kuru/patologia
Tauopatias/patologia
Substância Branca/patologia
[Mh] Termos MeSH secundário: Idoso
Síndrome de Creutzfeldt-Jakob/complicações
Síndrome de Creutzfeldt-Jakob/genética
Encefalopatia Espongiforme Bovina/complicações
Encefalopatia Espongiforme Bovina/genética
Seres Humanos
Corpos de Inclusão Intranuclear/patologia
Kuru/complicações
Masculino
Metionina/genética
Fenótipo
Tauopatias/complicações
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
AE28F7PNPL (Methionine)
[Em] Mês de entrada:1603
[Cu] Atualização por classe:150703
[Lr] Data última revisão:
150703
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150319
[St] Status:MEDLINE
[do] DOI:10.1111/neup.12192


  4 / 550 MEDLINE  
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[PMID]:25726360
[Au] Autor:Lukic A; Uphill J; Brown CA; Beck J; Poulter M; Campbell T; Adamson G; Hummerich H; Whitfield J; Ponto C; Zerr I; Lloyd SE; Collinge J; Mead S
[Ad] Endereço:MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
[Ti] Título:Rare structural genetic variation in human prion diseases.
[So] Source:Neurobiol Aging;36(5):2004.e1-8, 2015 May.
[Is] ISSN:1558-1497
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Prion diseases are a diverse group of neurodegenerative conditions, caused by the templated misfolding of prion protein. Aside from the strong genetic risk conferred by multiple variants of the prion protein gene (PRNP), several other variants have been suggested to confer risk in the most common type, sporadic Creutzfeldt-Jakob disease (sCJD) or in the acquired prion diseases. Large and rare copy number variants (CNVs) are known to confer risk in several related disorders including Alzheimer's disease (at APP), schizophrenia, epilepsy, mental retardation, and autism. Here, we report the first genome-wide analysis for CNV-associated risk using data derived from a recent international collaborative association study in sCJD (n = 1147 after quality control) and publicly available controls (n = 5427). We also investigated UK patients with variant Creutzfeldt-Jakob disease (n = 114) and elderly women from the Eastern Highlands of Papua New Guinea who proved highly resistant to the epidemic prion disease kuru, who were compared with healthy young Fore population controls (n = 395). There were no statistically significant alterations in the burden of CNVs >100, >500, or >1000 kb, duplications, or deletions in any disease group or geographic region. After correction for multiple testing, no statistically significant associations were found. A UK blood service control sample showed a duplication CNV that overlapped PRNP, but these were not found in prion disease. Heterozygous deletions of a 3' region of the PARK2 gene were found in 3 sCJD patients and no controls (p = 0.001, uncorrected). A cell-based prion infection assay did not provide supportive evidence for a role for PARK2 in prion disease susceptibility. These data are consistent with a modest impact of CNVs on risk of late-onset neurologic conditions and suggest that, unlike APP, PRNP duplication is not a causal high-risk mutation.
[Mh] Termos MeSH primário: Variações do Número de Cópias de DNA/genética
Doenças Priônicas/genética
Príons/genética
[Mh] Termos MeSH secundário: Regiões 3' não Traduzidas/genética
Idoso
Células Cultivadas
Síndrome de Creutzfeldt-Jakob/genética
Feminino
Predisposição Genética para Doença/genética
Estudo de Associação Genômica Ampla
Seres Humanos
Kuru/genética
Perda de Heterozigosidade/genética
Masculino
Proteínas Priônicas
Risco
Ubiquitina-Proteína Ligases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (3' Untranslated Regions); 0 (PRNP protein, human); 0 (Prion Proteins); 0 (Prions); EC 2.3.2.27 (Ubiquitin-Protein Ligases); EC 2.3.2.27 (parkin protein)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150302
[St] Status:MEDLINE


  5 / 550 MEDLINE  
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[PMID]:24637819
[Au] Autor:Shnaider NA
[Ad] Endereço:Krasnoiarskii gosudarstvennyi meditsinskii universitet im. prof. V.F. Voino-Iasenetskogo Minzdrava Rossii, Krasnoiarsk.
[Ti] Título:[History of human transmissible spongioform encephalopaties from kuru to new variant of Creutzfeldt-Jakob disease].
[So] Source:Zh Nevrol Psikhiatr Im S S Korsakova;114(1):58-70, 2014.
[Is] ISSN:1997-7298
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Mh] Termos MeSH primário: Síndrome de Creutzfeldt-Jakob/epidemiologia
Kuru/epidemiologia
[Mh] Termos MeSH secundário: Síndrome de Creutzfeldt-Jakob/etiologia
Síndrome de Creutzfeldt-Jakob/transmissão
Seres Humanos
Kuru/etiologia
Kuru/transmissão
[Pt] Tipo de publicação:JOURNAL ARTICLE; LECTURES
[Em] Mês de entrada:1407
[Cu] Atualização por classe:161018
[Lr] Data última revisão:
161018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140319
[St] Status:MEDLINE


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[PMID]:23740487
[Au] Autor:Atkins KE; Townsend JP; Medlock J; Galvani AP
[Ad] Endereço:Yale School of Public Health, 135 College Street, New Haven, CT 06510, USA. katherine.atkins@yale.edu
[Ti] Título:Epidemiological mechanisms of genetic resistance to kuru.
[So] Source:J R Soc Interface;10(85):20130331, 2013 Aug 06.
[Is] ISSN:1742-5662
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Transmissible spongiform encephalopathies (TSEs), such as kuru, are invariably fatal neurodegenerative conditions caused by a malformation of the prion protein. Heterozygosity of codon 129 of the prion protein gene has been associated with increased host resistance to TSEs, although the mechanism by which this resistance is achieved has not been determined. To evaluate the epidemiological mechanism of human resistance to kuru, we developed a model that combines the dynamics of kuru transmission and the population genetics of human resistance. We fitted our model to kuru data from the epidemic that occurred in Papua New Guinea over the last hundred years. To elucidate the epidemiological mechanism of human resistance, we estimated the incubation period and transmission rate of kuru for codon 129 heterozygotes and homozygotes using kuru incidence data and human genotype frequency data from 1957 to 2004. Our results indicate that human resistance arises from a combination of both a longer incubation period and reduced susceptibility to infection. This work provides evidence for balancing selection acting on a human population and the mechanistic basis for the heterozygote resistance to kuru.
[Mh] Termos MeSH primário: Resistência à Doença/genética
Heterozigoto
Homozigoto
Kuru
Modelos Genéticos
Príons/genética
[Mh] Termos MeSH secundário: Códon/genética
Feminino
Seres Humanos
Kuru/epidemiologia
Kuru/genética
Masculino
Papua Nova Guiné/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Codon); 0 (Prions)
[Em] Mês de entrada:1312
[Cu] Atualização por classe:161020
[Lr] Data última revisão:
161020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130607
[St] Status:MEDLINE
[do] DOI:10.1098/rsif.2013.0331


  7 / 550 MEDLINE  
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[PMID]:23587138
[Au] Autor:Kretzschmar H; Tatzelt J
[Ad] Endereço:Institut für Neuropathologie, München, Germany. hans.kretzschmar@med.uni-muenchen.de
[Ti] Título:Prion disease: a tale of folds and strains.
[So] Source:Brain Pathol;23(3):321-32, 2013 May.
[Is] ISSN:1750-3639
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Research on prions, the infectious agents of devastating neurological diseases in humans and animals, has been in the forefront of developing the concept of protein aggregation diseases. Prion diseases are distinguished from other neurodegenerative diseases by three peculiarities. First, prion diseases, in addition to being sporadic or genetic like all other neurodegenerative diseases, are infectious diseases. Animal models were developed early on (a long time before the advent of transgenic technology), and this has made possible the discovery of the prion protein as the infectious agent. Second, human prion diseases have true equivalents in animals, such as scrapie, which has been the subject of experimental research for many years. Variant Creutzfeldt-Jakob disease (vCJD) is a zoonosis caused by bovine spongiform encephalopathy (BSE) prions. Third, they show a wide variety of phenotypes in humans and animals, much wider than the variants of any other sporadic or genetic neurodegenerative disease. It has now become firmly established that particular PrP(Sc) isoforms are closely related to specific human prion strains. The variety of human prion diseases, still an enigma in its own right, is a focus of this article. Recently, a series of experiments has shown that the concept of aberrant protein folding and templating, first developed for prions, may apply to a variety of neurodegenerative diseases. In the wake of these discoveries, the term prion has come to be used for Aß, α-synuclein, tau and possibly others. The self-propagation of alternative conformations seems to be the common denominator of these "prions," which in future, in order to avoid confusion, may have to be specified either as "neurodegenerative prions" or "infectious prions."
[Mh] Termos MeSH primário: Doenças Priônicas/patologia
Dobramento de Proteína
Deficiências na Proteostase/patologia
[Mh] Termos MeSH secundário: Animais
Barreira Hematoencefálica
Síndrome de Creutzfeldt-Jakob/genética
Síndrome de Creutzfeldt-Jakob/patologia
Estudo de Associação Genômica Ampla
Seres Humanos
Kuru/genética
Kuru/patologia
Proteínas PrPC/química
Proteínas PrPC/genética
Proteínas PrPC/toxicidade
Doenças Priônicas/genética
Doenças Priônicas/transmissão
Deficiências na Proteostase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (PrPC Proteins)
[Em] Mês de entrada:1310
[Cu] Atualização por classe:130416
[Lr] Data última revisão:
130416
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130417
[St] Status:MEDLINE
[do] DOI:10.1111/bpa.12045


  8 / 550 MEDLINE  
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[PMID]:22862687
[Au] Autor:Gelpi E; Soler Insa JM; Parchi P; Saverioni D; Yagüe J; Nos C; Martínez-Saez E; Ribalta T; Ferrer I; Sanchez-Valle R
[Ad] Endereço:Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Facultat de Medicina, Spain. ellen.gelpi@gmail.com
[Ti] Título:Atypical neuropathological sCJD-MM phenotype with abundant white matter Kuru-type plaques sparing the cerebellar cortex.
[So] Source:Neuropathology;33(2):204-8, 2013 Apr.
[Is] ISSN:1440-1789
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:We describe an atypical neuropatholgical phenotype of sporadic Creutzfeldt-Jakob disease (sCJD) in a 64-year-old man presenting with a 5-month history of rapidly progressive dementia, comprising behavioral disturbances, memory complaints, disorientation and language alterations. MRI showed diffuse atrophy and hyperintensities in parietal, occipital, temporal and frontal cortices and left caudate nucleus on T2-weighted and fluid-attenuated inversion recovery images. No typical EEG alterations were observed. Repeated 14-3-3 assay was positive after a first negative test. Neuropathology showed classical CJD changes with small cortical foci of large confluent vacuoles and relatively well-preserved cerebellar cortex. The most striking feature was the presence of abundant Kuru-type plaques in both cerebral cortex and subcortical white matter. Sparse Kuru-type plaques were also seen in cerebellum, although only in white matter. Immunohistochemistry showed, in addition to unicentric plaques, diffuse synaptic and patchy perivacuolar, as well as plaque-like and periaxonal pathological prion protein deposits (PrP(res) ). Western blot studies demonstrated the co-occurrence of PrP(res) types 1 and 2 in frontal cortex and a relatively weak type 2 signal in cerebellum. PRNP genotyping revealed methionine homozygosity at codon 129 and excluded mutations. This case shows a previously undescribed combination of histopathological features which preclude its classification according to the current phenotypic and molecular sCJD classification. The observation demonstrates that Kuru-type amyloid plaques mainly involving the cerebral white matter may also occur in sCJD cases with short clinical course and the co-existence of PrP(res) types 1 and 2. This case further highlights the complexity of the correlations between histopathological phenotype and PrP(res) isotype in prion diseases.
[Mh] Termos MeSH primário: Córtex Cerebelar
Síndrome de Creutzfeldt-Jakob/patologia
Kuru/patologia
Fibras Nervosas Mielinizadas/patologia
Fenótipo
[Mh] Termos MeSH secundário: Síndrome de Creutzfeldt-Jakob/complicações
Evolução Fatal
Seres Humanos
Kuru/complicações
Masculino
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1402
[Cu] Atualização por classe:130404
[Lr] Data última revisão:
130404
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120807
[St] Status:MEDLINE
[do] DOI:10.1111/j.1440-1789.2012.01341.x


  9 / 550 MEDLINE  
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[PMID]:21621879
[Au] Autor:Ortega-Cubero S; Luquín MR; Domínguez I; Arbizu J; Pagola I; Carmona-Abellán MM; Riverol M
[Ad] Endereço:Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, Spain. sortegac@unav.es
[Ti] Título:Structural and functional neuroimaging in human prion diseases.
[So] Source:Neurologia;28(5):299-308, 2013 Jun.
[Is] ISSN:1578-1968
[Cp] País de publicação:Spain
[La] Idioma:eng; spa
[Ab] Resumo:INTRODUCTION: Prion diseases are neurodegenerative disorders resulting from the accumulation of a misfolded isoform of the cellular prion protein (PrPc). They can occur as acquired, sporadic, or hereditary forms. Although prion diseases show a wide range of phenotypic variations, pathological features and clinical evolution, they are all characterised by a common unfavourable course and a fatal outcome. REVIEW SUMMARY: Some variants, such as kuru, have practically disappeared, while others, for example the variant Creutzfeldt-Jakob (vCJD) or those attributable to iatrogenic causes, are still in force and pose a challenge to current medicine. There are no definitive pre-mortem diagnostic tests, except for vCJD, where a tonsil biopsy detects 100% of the cases. For this reason, diagnostic criteria dependent on statistical probability have had to be created. These require complementary examinations, such as an electroencephalogram (EEG) or the detection of 14-3-3 protein in cerebrospinal fluid (CSF). Only the pulvinar sign in magnetic resonance imaging (MRI) has been included as a vCJD diagnostic criterion. The present review discusses neuroimaging findings for each type of prion disease in patients with a definitive histopathological diagnosis. CONCLUSIONS: The aim is to define the usefulness of these complementary examinations as a tool for the diagnosis of this family of neurodegenerative diseases.
[Mh] Termos MeSH primário: Encéfalo/patologia
Doenças Priônicas/patologia
[Mh] Termos MeSH secundário: Proteínas 14-3-3/líquido cefalorraquidiano
Síndrome de Creutzfeldt-Jakob/diagnóstico
Síndrome de Creutzfeldt-Jakob/patologia
Eletroencefalografia
Doença de Gerstmann-Straussler-Scheinker/diagnóstico
Doença de Gerstmann-Straussler-Scheinker/patologia
Seres Humanos
Insônia Familiar Fatal/diagnóstico
Insônia Familiar Fatal/patologia
Kuru/diagnóstico
Kuru/patologia
Imagem por Ressonância Magnética
Neuroimagem
Proteínas PrPC/líquido cefalorraquidiano
Proteínas PrPC/metabolismo
Doenças Priônicas/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (14-3-3 Proteins); 0 (PrPC Proteins)
[Em] Mês de entrada:1401
[Cu] Atualização por classe:130604
[Lr] Data última revisão:
130604
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110531
[St] Status:MEDLINE


  10 / 550 MEDLINE  
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[PMID]:23225013
[Au] Autor:Sikorska B; Liberski PP
[Ad] Endereço:Department of Molecular Pathology and Neuropathology, Chair of Oncology, Medical University of Lodz, Czechoslowacka st. 8/10, 92-216, Lodz, Poland, elmo@csk.umed.lodz.pl.
[Ti] Título:Human prion diseases: from Kuru to variant Creutzfeldt-Jakob disease.
[So] Source:Subcell Biochem;65:457-96, 2012.
[Is] ISSN:0306-0225
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Transmissible spongiform encephalopathies (TSEs) or prion diseases are the names given to the group of fatal neurodegenerative disorders that includes kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS), fatal and sporadic familial insomnia and the novel prion disease variable protease-sensitive prionopathy (PSPr) in humans. Kuru was restricted to natives of the Foré linguistic group in Papua New Guinea and spread by ritualistic endocannibalism. CJD appears as sporadic, familial (genetic or hereditary) and infectious (iatrogenic) forms. Variant CJD is a zoonotic CJD type and of major public health importance, which resulted from transmission from bovine spongiform encephalopathy (BSE) through ingestion of contaminated meat products. GSS is a slowly progressive hereditary autosomal dominant disease and the first human TSE in which a mutation in a gene encoding for prion protein (PrP) was discovered. The rarest human prion disease is fatal insomnia, which may occur, in genetic and sporadic form. More recently a novel prion disease variable protease-sensitive prionopathy (PSPr) was described in humans.TSEs are caused by a still incompletely defined infectious agent known as a "prion" which is widely regarded to be an aggregate of a misfolded isoform (PrP(Sc)) of a normal cellular glycoprotein (PrP(c)). The conversion mechanism of PrP(c) into PrP(Sc) is still not certain.
[Mh] Termos MeSH primário: Síndrome de Creutzfeldt-Jakob
Kuru
Mutação
Proteínas PrPSc
Dobramento de Proteína
[Mh] Termos MeSH secundário: Animais
Bovinos
Síndrome de Creutzfeldt-Jakob/epidemiologia
Síndrome de Creutzfeldt-Jakob/genética
Síndrome de Creutzfeldt-Jakob/metabolismo
Síndrome de Creutzfeldt-Jakob/patologia
Seres Humanos
Kuru/epidemiologia
Kuru/genética
Kuru/metabolismo
Kuru/patologia
Proteínas PrPSc/genética
Proteínas PrPSc/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (PrPSc Proteins)
[Em] Mês de entrada:1402
[Cu] Atualização por classe:121211
[Lr] Data última revisão:
121211
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:121211
[St] Status:MEDLINE
[do] DOI:10.1007/978-94-007-5416-4_17



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