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The biology and molecular biology of scrapie-like diseases.

The transmissible spongiform encephalopathies (TSE's) are degenerative diseases of the central nervous system which naturally affect man (Creutzfeldt-Jakob disease [CJD], Gerstmann-Sträussler syndrome [GSS], kuru), sheep and goats (scrapie), cattle (bovine spongiform encephalopathy [BSE]), mink (transmissible mink encephalopathy), mule deer, elk and antelope (chronic wasting disease). Spongiform encephalopathies have also been diagnosed in captive species of zoo antelope and in domestic cats. Much has been written about these maladies in the wake of the BSE outbreak, the tragic cases of CJD in…

[Prion diseases].

Creutzfeldt-Jakob disease, kuru, Gerstmann Sträussler Scheinker syndrome and fatal familial insomnia in humans, as well as scrapie and bovine spongiform encephalopathy, in animals, are fatal disorders of the central nervous system that are part of the group of transmissible spongiform encephalopathies, (TSE) or prion diseases. Neuronal intracellular spongiosis and the accumulation of abnormal, protease resistant prion protein in the nervous central system characterize TSE. The conformational change of a host protein, prion protein, into a pathological isoform is the key pathogenetic event in T…

Microglia and the pathogenesis of spongiform encephalopathies.

Alterations in the phenotype and function of microglia, the resident mononuclear phagocytes of the central nervous system, are among the ear … ase-resistant prion isoform. An additional upregulation in microglial response has been reported in Kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), scrapie, in transgenic murine models and in culture, where microglial activation often accompanies prion protein deposition and neuronal loss. This article will review …

[Difficulties in differential diagnosis of long-term Creutzfeldt- Jakob disease].

Creutzfeldt-Jakob disease (CJD) is characterized by a rapidly progressive dementia that often leads to death within a few months of onset. However, some cases evolve over a much longer period of time and have a clinical picture that is difficult to distinguish from other progressive dementias that occur in the adult, especially Alzheimer's disease (AD). We examine the clinical features of 3 patients with pathologically confirmed CJD whose course was slow (4-5 years) and who were initially diagnosed as having AD. Only two of them had shown signs of CJD in the terminal stages. In this study we e

Sporadic Creutzfeldt-Jakob Disease: A Case Report and Literature Review.

Prion disease is an uncommon entity characterized by exceptionally rapid neurodegenerative deterioration. There are three categories of prion disease: (1) sporadic: sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia, and protease-sensitive prionopathy; (2) genetic: genetic Creutzfeldt-Jakob disease, familial fatal insomnia, and Gerstmann-Sträussler-Scheinker syndrome; and (3) acquired: Kuru, iatrogenic Creutzfeldt-Jakob disease, and variant Creutzfeldt-Jakob disease. Although it is an incurable disease, a specific pathophysiological mechanism exists involving neuronal loss, gli…

Oxidative stress and mitochondrial dysfunction-linked neurodegenerative disorders.

Reactive species play an important role in physiological functions. Overproduction of reactive species, notably reactive oxygen (ROS) and ni … misfold may turn to other NDDs include Creutzfeldt-Jakob disease, Bovine Spongiform Encephalopathy, Kuru, Gerstmann-Straussler-Scheinker syndrome, and Fatal Familial Insomnia. An overview of the oxidative stress and mitochondrial dysfunction-linked NDDs has been summarized in this review.

Bacterial colitis increases susceptibility to oral prion disease.

Dietary exposure to prion-contaminated materials has caused kuru and variant Creutzfeldt-Jakob disease in humans and transmissible spongiform encephalopathies (TSEs) in cattle, mink, and felines. The epidemiology of dietary prion infections suggests that host genetic modifiers and possibly exogenous cofactors may play a decisive role in determining disease susceptibility. However, few cofactors influencing susceptibility to prion infection have been identified. In the present study, we investigated whether colitis might represent one such cofactor. We report that moderate colitis caused by an …

Infectious diseases in the operating room.

Patients with infectious diseases have special implications for infection control in the operating room. The increased use and abuse of anti … ong with the human prions diseases Creutzfeldt-Jakob disease, German-Straüssler-Scheinker syndrome, kuru, and fatal familial insomnia. We provide a template of precautions that can be used in developing operating room and anesthesia infection control protocols for this patient population.

PrP expression in B lymphocytes is not required for prion neuroinvasion.

Prion diseases are typically initiated by infection of peripheral sites, as in the case of bovine spongiform encephalopathy, new variant Creutzfeldt-Jakob disease, kuru and most cases of iatrogenic Creutzfeldt-Jakob disease. In mouse scrapie, prion infectivity accumulates in lymphoid organs, and the absence of mature B lymphocytes prevents peripherally administered prions from inducing central nervous system disease. We have now assessed whether expression of the cellular prion protein, PrPc, is required for B lymphocytes to mediate neuroinvasion. We found that repopulation of SCID and Rag-1(-…

From Creutzfeldt-Jakob disease to the mad cow epidemic.

Hans-Gerhard Creutzfeldt and Alfons Jakob independently authored clinical and pathologic descriptions of a new syndrome in the 1920s. This syndrome, which subsequently came to be named after them, was characterized by dementia, motor and coordination abnormalities, a fatal course, and pathologic findings of diffuse spongiform neuronal degeneration. Although it appeared for many years to be little more than a medical curiosity, Creutzfeldt-Jakob disease attained widespread attention by its pathologic similarity to kuru and bovine spongiform encephalopathy, "mad cow disease." Because there are s…

Ultrastructural localization of cellular prion protein (PrPc) in synaptic boutons of normal hamster hippocampus.

The cellular prion protein (PrPc) is a membrane sialoglycoprotein synthesized in the central nervous system and extraneural tissues. Its post-translational modification produces an accumulation of abnormal isoform PrPsc found in brains of transmissible neurodegenerative disorders in animals (scrapie and bovine spongiform encephalopathy) and humans (Kuru, Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome). One major unanswered question relative to PrPc concerns its physiological role in brain neurons, depending largely on the limited knowledge of its subcellular localization. U…

Генетический анализ болезни Креуцфельдта-Якоба и связанных с этим расстройств.

Генетические исследования более 200 случаев заболевания Креуцфельдт-Якоб (CJD), синдрома Герстманна-Страусслера-Шейкера (GSS), смертельной семейной бессонницы (FFI) и Куру позволили получить достоверные доказательства того, что семейные формы CJD и все известные случаи СОБ и FFI связаны с родными мутациями в области кодирования гена PPRP на хромосоме 20, либо замещают точечные, либо расширяют число 24-нуклеотидовых повторителей. Фенотипическое выражение FFI и семейных CJD, клинически и патологически различимые синдромы, связанные с 178Asp->Asn замещение, зависит от полиморфизма в кодоне 129. С

Совпадение в аннотации оригинала
Genetic studies of over 200 cases of Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI) and kuru have brought a reliable body of evidence that the familial forms of CJD and all known cases of GSS and FFI are linked to germline mutations in the coding region of the PRNP gene on chromosome 20, either p…

Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome.

A host protein encoded by the gene specifying the scrapie amyloid precursor affects pathogenesis of the transmissible spongiform encephalopathies: Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker's syndrome (GSS), and kuru in man, and scrapie in animals. We found a mutation in this gene of two patients with CJD from one family and a second mutation in the same gene in three patients with GSS from another family. The mutation in two related familial CJD patients changed glutamine in position 200 tolysine. This mutation was absent in other individuals including unrelated patients …

Spongiform polioencephalomyelopathy caused by a murine retrovirus. II. Ultrastructural localization of virus replication and spongiform changes in the central nervous system.

The development of murine retrovirus induced spongiform polioencephalomyelopathy was studied sequentially by electron microscopy. During the … lls were absent. The ultrastructural changes were remarkably similar to those described in scrapie, Kuru, and Creutzfeldt-Jakob disease.

Prion protein oligomerization.

The PrP propensity to adopt different structures is tightly linked to transmissible spongiform encephalopathies (TSE) which include Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scjeinker (GSS) and Kuru syndrome. In most cases, TSE is associated with the accumulation in the brain of an abnormally folded protease-resistant protein, PrP Sc or PrPres, which is derived from a cellular host-encoded protease-sensitive conformer, designated PrP C. The prion propagation in the brain is postulated to occur via a conformational change of PrP C into the amyloidogenic form PrP Sc, characterized by…

Human prion diseases.

The classical prion diseases in man comprise Creutzfeldt-Jakob disease (CJD), Kuru and Gerstmann-Sträussler-Scheinker syndrome (GSS). Recent advances in the biochemistry and the molecular biology of the transmissible agents responsible for these human spongiform encephalopathies have prompted renewed interest in their clinical and pathological features. A broadening spectrum of human prion diseases has now been identified including novel entities such as Fatal Familial Insomnia and variants of CJD and GSS characterised by specific abnormalities in the human prion protein (PrP) gene on chromoso…

Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.

Patients with iatrogenic Creutzfeldt-Jakob disease due to administration of cadaver-sourced growth hormone during childhood are still being … mination was conducted in nine patients. All but one showed synaptic prion deposition with numerous kuru type plaques in the basal ganglia, anterior frontal and parietal cortex, thalamus, basal ganglia and cerebellum. The patient with the shortest clinical duration had an atypical synaptic deposition of abnormal prion protein and no kuru plaques. Taken …