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Creutzfeldt-jakob disease

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https://www.readbyqxmd.com/read/28987186/prion-diseases
#1
James W Ironside, Diane L Ritchie, Mark W Head
The human prion diseases comprise Creutzfeldt-Jakob disease, variably protease-sensitive prionopathy, Gerstmann-Sträussler-Scheinker disease, fatal familial insomnia, and kuru. Each is a uniformly fatal rare neurodegenerative disease in which conformational changes in the prion protein are thought to be the central pathophysiologic event. The majority of cases of human prion diseases occur worldwide in the form of sporadic Creutzfeldt-Jakob disease and a minority of around 10-15% are associated with mutations of the prion protein gene, termed PRNP, in the forms of genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28980611/-how-many-patients-with-creutzfeldt-jakob-disease-are-there-in-russia
#2
T A Polyakova
The article presents epidemiological data on the prevalence of Creutzfeldt-Jakob disease in the world and modern techniques for the rapid accurate diagnosis. The author discusses a national approach to this subject.
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28967811/clinical-findings-of-a-probable-case-of-mm2-cortical-type-sporadic-creutzfeldt-jakob-disease-with-antibodies-to-anti-n-terminus-of-%C3%AE-enolase
#3
Yuichi Hayashi, Megumi Yamada, Akio Kimura, Takahiko Asano, Katsuya Satoh, Tetsuyuki Kitamoto, Maokoto Yoneda, Takashi Inuzuka
We report the case of a 76-year-old woman presenting with 47-month history of progressive dementia and cortical blindness with no family history. Antibodies against thyroid glands and the N-terminus of α-enolase (NAE) were detected in her serum. Neurological examination revealed progressive dementia, frontal signs, visual disturbance, and exaggerated bilateral tendon reflexes in both legs. Diffusion MRI showed cortical hyper-intensities in the bilateral occipital and parietal, and the left frontal and temporal cortices...
October 2, 2017: Prion
https://www.readbyqxmd.com/read/28962210/three-sporadic-cases-of-creutzfeldt-jakob-disease-in-china-and-their-clinical-analysis
#4
Xingbang Wang, Na Li, Aifen Liu, Lin Ma, Peiyan Shan, Wenjing Jiang, Qun Zhang
The present study described the characteristics of three cases of Creutzfeldt-Jakob disease (CJD) in China and analyzed their clinical presentations. The clinical information of the three cases was collected and analyzed. Blood and cerebrospinal fluid (CSF) specimens of the patients were collected for detection of the prion protein (PRNP) gene and 14-3-3 protein levels. Dynamic changes of electroencephalograms (EEGs) and brain magnetic resonance images (MRIs) were also observed. All the three cases were sporadic CJD cases...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28961066/toward-therapy-of-human-prion-diseases
#5
Adriano Aguzzi, Asvin K K Lakkaraju, Karl Frontzek
Three decades after the discovery of prions as the cause of Creutzfeldt-Jakob disease and other transmissible spongiform encephalopathies, we are still nowhere close to finding an effective therapy. Numerous pharmacological interventions have attempted to target various stages of disease progression, yet none has significantly ameliorated the course of disease. We still lack a mechanistic understanding of how the prions damage the brain, and this situation results in a dearth of validated pharmacological targets...
September 27, 2017: Annual Review of Pharmacology and Toxicology
https://www.readbyqxmd.com/read/28936074/syndromes-of-rapidly-progressive-cognitive-decline-our-experience
#6
Sadanandavalli Retnaswami Chandra, Lakshminarayanapuram Gopal Viswanathan, Anupama Ramakanth Pai, Rahul Wahatule, Suvarna Alladi
BACKGROUND: Dementias are fairly slowly progressive degenerative diseases of brain for which treatment options are very less and carry a lot of burden on family and society. A small percentage of them are rapidly progressive and mostly carry a different course outcome. However, there are no definite criteria other than the time line for these patients. AIMS: The aim of this was to identify and categorize the causes and course of rapidly progressive dementias seen in our center...
August 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28924012/inhibition-of-il-1%C3%AE-signaling-normalizes-nmda-dependent-neurotransmission-and-reduces-seizure-susceptibility-in-a-mouse-model-of-creutzfeldt-jakob-disease
#7
Ilaria Bertani, Valentina Iori, Massimo Trusel, Mattia Maroso, Claudia Foray, Susanna Mantovani, Raffaella Tonini, Annamaria Vezzani, Roberto Chiesa
Creutzfeldt-Jakob disease (CJD) is a neurodegenerative disorder caused by prion protein (PrP) misfolding, clinically recognized by cognitive and motor deficits, electroencephalographic (EEG) abnormalities and seizures. Its neurophysiological bases are not known. To assess the potential involvement of N-methyl-D-aspartate receptor (NMDAR) dysfunction, we analyzed NMDA-dependent synaptic plasticity in hippocampal slices from Tg(CJD) mice, which model a genetic form of CJD. Because PrP depletion may result in functional upregulation of NMDARs, we also analyzed PrP knockout (KO) mice...
September 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28921636/diagnostic-challenge-of-non-specific-visual-symptoms-consideration-of-heidenhain-variant-of-creutzfeldt-jakob-disease
#8
Dimitrios Ntantos, Petros Aggelopoulos, Dimitrios Kazis, Ioannis E Dagklis, Sevasti Bostantjopoulou
No abstract text is available yet for this article.
September 17, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28898175/an-unusual-presentation-of-creutzfeldt-jakob-disease-and-an-example-of-how-hickam-s-dictum-and-ockham-s-razor-can-both-be-right
#9
Eli S Neiman, Amtul Farheen, Nancy Gadallah, Thomas Steineke, Peter Parsells, Zev A Kizelnik, Michael Rosenberg
Patients can have more than one neurological problem, and sorting out acute from chronic disease can be challenging. The authors report a middle-aged patient who presented with ataxia, right hemiparesis, and abnormal nystagmus. Magnetic resonance imaging (MRI) showed a Chiari and an arachnoid cyst with brainstem compression that appeared to explain his abnormal examination. Shortly after admission, he was noted to have intermittent abnormal behavior and confusion. History from family revealed significant acute and chronic psychiatric problems that appeared to explain his abnormal mental status; this delayed the diagnosis of intermittent complex partial seizures...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28861800/molecular-subtyping-of-prp-res-in-human-sporadic-cjd-brain-tissue
#10
G M Klug, V Lewis, S J Collins
Across the spectrum of sporadic human prion diseases (also known as transmissible spongiform encephalopathies: TSE), there is considerable phenotypic diversity. Cumulative scientific evidence supports that prions, the infectious agents of prion diseases, are constituted predominantly, if not exclusively, by misfolded, typically protease-resistant, disease-associated isoforms of the prion protein (PrP(res)). Consequently, tissue deposition of PrP(res) is considered a hallmark of prion disease pathology, and this can be visualized by Western blotting after tissue homogenization and treatment with proteinases, particularly proteinase K (PK)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28861778/purification-and-fibrillation-of-full-length-recombinant-prp
#11
Natallia Makarava, Regina Savtchenko, Ilia V Baskakov
Misfolding and aggregation of prion protein are related to several neurodegenerative diseases in humans such as Creutzfeldt-Jakob disease, fatal familial insomnia, and Gerstmann-Straussler-Scheinker disease. A growing number of applications in the prion field including assays for detection of PrP(Sc) and methods for production of PrP(Sc) de novo require recombinant prion protein (PrP) of high purity and quality. Here, we report an experimental procedure for expression and purification of full-length mammalian prion protein...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28855681/%C3%AE-synuclein-amyloids-hijack-prion-protein-to-gain-cell-entry-facilitate-cell-to-cell-spreading-and-block-prion-replication
#12
Suzana Aulić, Lara Masperone, Joanna Narkiewicz, Elisa Isopi, Edoardo Bistaffa, Elena Ambrosetti, Beatrice Pastore, Elena De Cecco, Denis Scaini, Paola Zago, Fabio Moda, Fabrizio Tagliavini, Giuseppe Legname
The precise molecular mechanism of how misfolded α-synuclein (α-Syn) accumulates and spreads in synucleinopathies is still unknown. Here, we show the role of the cellular prion protein (PrP(C)) in mediating the uptake and the spread of recombinant α-Syn amyloids. The in vitro data revealed that the presence of PrP(C) fosters the higher uptake of α-Syn amyloid fibrils, which was also confirmed in vivo in wild type (Prnp (+/+)) compared to PrP knock-out (Prnp (-/-)) mice. Additionally, the presence of α-Syn amyloids blocked the replication of scrapie prions (PrP(Sc)) in vitro and ex vivo, indicating a link between the two proteins...
August 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28851967/generation-of-a-new-infectious-recombinant-prion-a-model-to-understand-gerstmann-str%C3%A3-ussler-scheinker-syndrome
#13
Saioa R Elezgarai, Natalia Fernández-Borges, Hasier Eraña, Alejandro M Sevillano, Jorge M Charco, Chafik Harrathi, Paula Saá, David Gil, Qingzhong Kong, Jesús R Requena, Olivier Andréoletti, Joaquín Castilla
Human transmissible spongiform encephalopathies (TSEs) or prion diseases are a group of fatal neurodegenerative disorders that include Kuru, Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia. GSS is a genetically determined TSE caused by a range of mutations within the prion protein (PrP) gene. Several animal models, based on the expression of PrPs carrying mutations analogous to human heritable prion diseases, support that mutations might predispose PrP to spontaneously misfold...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28838670/amplified-detection-of-prions-and-other-amyloids-by-rt-quic-in-diagnostics-and-the-evaluation-of-therapeutics-and-disinfectants
#14
Byron Caughey, Christina D Orru, Bradley R Groveman, Andrew G Hughson, Matteo Manca, Lynne D Raymond, Gregory J Raymond, Brent Race, Eri Saijo, Allison Kraus
Among the most sensitive, specific and practical of methods for detecting prions are the real-time quaking-induced conversion (RT-QuIC) assays. These assays exploit the fundamental self-propagating activity of prions to amplify the presence of prion seeds by as much as a trillion-fold. The reactions can detect most of the known mammalian prion diseases, often with sensitivities greater than those of animal bioassays. RT-QuIC assays are performed in multiwell plates with fluorescence detection and have now reached the sensitivity and practicality required for routine prion disease diagnostics...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/28838667/the-structure-of-the-infectious-prion-protein-and-its-propagation
#15
Jesús R Requena, Holger Wille
The prion diseases, which include Creutzfeldt-Jakob disease in humans, chronic wasting disease in cervids (i.e., deer, elk, moose, and reindeer), bovine spongiform encephalopathy in cattle, as well as sheep and goat scrapie, are caused by the conversion of the cellular prion protein (PrP(C)) into a disease-causing conformer (PrP(Sc)). PrP(C) is a regular, GPI-anchored protein that is expressed on the cell surface of neurons and many other cell types. The structure of PrP(C) is well studied, based on analyses of recombinant PrP, which is thought to mimic the structure of native PrP(C)...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/28838666/neuropathology-of-human-prion-diseases
#16
Diane L Ritchie, James W Ironside
The human prion diseases comprise sporadic, genetic, and acquired disorders. These are rare conditions with a heterogeneous clinicopathologic phenotype, which can make diagnosis challenging. A combined clinical, genetic, neuropathologic and biochemical approach to diagnosis is therefore essential. Since prion infectivity is the highest in tissues from the central nervous system, special laboratory precautions are required for the safe handling of these tissues. Neuropathologic assessment is generally performed following autopsy, when the fixed brain should be adequately sampled and studied by conventional stains and immunohistochemistry for the abnormal form of the prion protein...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/28838665/infectious-and-sporadic-prion-diseases
#17
Richard Knight
Prion diseases are progressive fatal encephalopathies characterized by a neurodegenerative pathology, the tissue deposition of abnormally folded prion protein and, in general, potential transmissibility. Creutzfeldt-Jakob disease (CJD) is the commonest human prion disease and occurs in three principal forms: sporadic (idiopathic), acquired (infectious), and inherited (genetic). This chapter concerns the sporadic and acquired forms. Sporadic CJD occurs worldwide and affects mainly the middle aged and elderly...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/28838661/transmission-and-replication-of-prions
#18
Alba Marín-Moreno, Natalia Fernández-Borges, Juan C Espinosa, Olivier Andréoletti, Juan M Torres
Transmissible spongiform encephalopathies (TSEs) are a group of progressive, invariably fatal diseases that affect the nervous system of many mammals including humans. The key molecular event in the pathogenesis of TSEs is the conversion of the cellular prion protein PrP(C) into a disease-associated isoform PrP(Sc). The "protein-only hypothesis" argues that PrP(Sc) itself is the infectious agent. In effect, PrP(Sc) can adopt several structures that represent different prion strains. The interspecies transmission of TSEs is difficult because of differences between the host and donor primary PrP sequence...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/28827466/teaching-neuroimages-extensive-cortical-involvement-in-creutzfeldt-jakob-disease
#19
Sanjay Hettige, Monica Badve, Manisha Narasimhan, Lynette Masters, Shu Wang
No abstract text is available yet for this article.
August 22, 2017: Neurology
https://www.readbyqxmd.com/read/28821618/region-specific-protein-misfolding-cyclic-amplification-reproduces-brain-tropism-of-prion-strains
#20
Nicolas Privat, Etienne Levavasseur, Serfildan Yildirim, Samia Hannaoui, Jean-Philippe Brandel, Jean-Louis Laplanche, Vincent Béringue, Danielle Seilhean, Stéphane Haïk
Human prion diseases such as Creutzfeldt-Jakob disease are transmissible brain proteinopathies, characterized by the accumulation of a misfolded isoform of the host cellular prion protein (PrP) in the brain. According to the prion model, prions are defined as proteinaceous infectious particles composed solely of this abnormal isoform of PrP (PrP(Sc)). Even in the absence of genetic material, various prion strains can be propagated in experimental models. They can be distinguished by the pattern of disease they produce and especially by the localization of PrP(Sc) deposits within the brain and the spongiform lesions they induce...
October 6, 2017: Journal of Biological Chemistry
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