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Variante da doença Creutzfeldt-Jakob
ORPHA:576370CID-10 · A81.0CID-11 · 8E01.2DOENÇA RARA

A doença de Creutzfeldt–Jakob (DCJ), também denominada encefalopatia espongiforme subaguda, é uma doença neurodegenerativa fatal. Os sintomas iniciais mais comuns são perda de memória, alterações no comportamento, falta de coordenação e perturbações visuais Entre os sintomas mais tardios estão demência, movimentos involuntários, perda de visão, fadiga e coma. Em cerca de 70% dos casos a pessoa morre no prazo de um ano após o diagnóstico.

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Introdução

O que você precisa saber de cara

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Doença priônica neurodegenerativa rara, associada ao consumo de carne contaminada com o agente da doença de Creutzfeldt-Jakob bovina (vaca louca). Causa distúrbios neurológicos progressivos, incluindo alterações psiquiátricas e motoras, com evolução fatal.

Publicações científicas
1.087 artigos
Último publicado: 2026 Dec

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
233
pacientes catalogados
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: A81.0
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Total histórico1.087PubMed
Últimos 10 anos172publicações
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Publicações mais relevantes

Timeline de publicações
173 papers (10 anos)
#1

Epidemiology of progressive intellectual and neurological deterioration in UK children.

Developmental medicine and child neurology2026 Mar

To study the neurodegenerative diseases that cause progressive intellectual and neurological deterioration (PIND) in children in the UK. This active prospective epidemiological study asked UK paediatricians to notify all childhood cases of PIND via the British Paediatric Surveillance Unit. Clinical data were obtained using a questionnaire or via a site visit. An independent PIND study Expert Group classified the cases. Between May 1997 and April 2024 (27 years), 2373 children with PIND were identified who had an underlying diagnosis to explain their deterioration. There were six cases of variant Creutzfeldt-Jakob disease plus 2367 children (1265 males, 1102 females) with other diseases. The lifetime risk of having a diagnosed disease causing PIND was 0.1 in 1000 live births. Asian British children made up 28.6% of the 2183 cases with known ethnicity. Excluding variant Creutzfeldt-Jakob disease, diagnosed children had 259 diseases, identified before death in 99% of children (only 39 were known to have had postmortems). Increasingly, diagnosis was made using genetic studies. Sixty-one per cent (157 of 259) of the diseases were inborn errors of metabolism, affecting 78% of diagnosed children. There were 43 lysosomal diseases. This unique epidemiological study of many rare childhood neurodegenerative diseases provides valuable practical information about the presentation, clinical features, and inheritance of these complex disorders.

#2

Variant Creutzfeldt-Jakob disease surveillance in Spain, 1993-2021.

Frontiers in public health2026

Variant Creutzfeldt-Jakob disease (vCJD) is a fatal transmissible prion disorder attributed primarily to the ingestion of meat from cattle infected with bovine spongiform encephalopathy (BSE), and it can also be transmitted through blood transfusions and occupational exposure in laboratories. As of July 2024, 233 deaths had been recorded in 12 countries, mostly in the United Kingdom (UK) and France. This study aimed to describe the results of vCJD surveillance in Spain from 1993 to 2021 and the responses to those results. Surveillance spanned the following three periods: 1993-2000, when neurologists and public health professionals created a network for reporting potential cases; 2001-2010, when diagnostic criteria were improved, and management guidelines were published; and 2011-2021, when reporting and post-mortem analyses decreased. Five deaths due to vCJD were identified through post-mortem between 2005 and 2008 (ages ranging from 25 to 64 years). In two cases involving a mother and her son, their prion strain was similar to the strain found in UK humanized mouse models, suggesting a link to BSE. Three cases had recently undergone invasive dental procedures, one had undergone a fibroscopy, and another had donated blood several times. The majority of prevention measures were adopted with a delay. Spain is the third most affected country by vCJD. Interruption of beef imports from the UK and control of the local BSE epizootic may have helped control vCJD in Spain since 2009. The increase in vCJD deaths through occupational exposures in laboratory work in other countries since 2016 should act as a warning signal for the surveillance of all forms of human transmissible spongiform encephalopathies.

#3

Strain Traits of Intracranially Administered L-Type Bovine Spongiform Encephalopathy Prions Are not Significantly Modified During Intraspecies Transmission in Cynomolgus Monkeys.

Microbiology and immunology2026 Mar

Among the three prion strains of bovine spongiform encephalopathy (BSE), classical BSE (C-BSE) prions are known causative agents of variant Creutzfeldt-Jakob disease. By contrast, human infections with L-type (L-) or H-type (H-) BSE prions have not been reported. Nonetheless, the zoonotic potential of L-BSE prions is supported by their successful primary transmission from cattle to cynomolgus macaque (Macaca fascicularis) monkeys via intracranial challenge. To assess whether the defining strain traits of L-BSE prions remain stable following secondary intraspecies transmission, we prepared brain homogenates from a diseased macaque that had previously undergone primary transmission of L-BSE prions, and intracranially administered them into two naïve macaques. Both animals succumbed to the disease within humane endpoints comparable to those observed in the primary transmission. Histopathological and immunohistochemical analyses of brain tissues showed no significant changes relative to primary transmission, including severe vacuolation and fine synaptic distribution of disease-associated forms of prion protein (PrPSc) in the cerebrum, and sparse PrPSc plaques in the cerebellum. In bioassays using C57BL/6 J mice, cattle-derived L-BSE prions and those passaged once or twice in macaques failed to transmit to mice, whereas cattle-derived C-BSE prions and their macaque-passaged counterparts were transmissible. These findings refine our understanding of L-BSE pathogenesis and confirm the stability of L-BSE prions following intracranial transmission in a nonhuman primate model.

#4

Estimating future variant Creutzfeldt-Jakob disease cases in the UK: a cohort-based probabilistic model.

The Lancet regional health. Europe2025 Dec

Variant Creutzfeldt-Jakob disease (vCJD) is a fatal prion disorder linked to dietary exposure to bovine spongiform encephalopathy (BSE). The epidemic peaked in the early 2000s, and no new cases have been reported in the UK since 2016. However, uncertainties remain regarding potential future cases, particularly in individuals with non-MM prion protein gene codon 129 genotypes, and possible secondary transmission via blood transfusion. We aimed to update risk estimates with recent data, informed by a probabilistic modelling approach. We developed a cohort-based probabilistic model for variant CJD incidence incorporating genotype-specific attack rates and incubation periods, accounting for competing mortality risks. Model parameters were calibrated using historical case data and life-table analyses. We explored multiple scenarios, including sensitivity analyses with alternative incubation period distributions and potential missed diagnoses. Secondary transmission risk was assessed using historical transfusion-linked cases and epidemiological data. In the base-case scenario, our model estimates a 48% probability that no further vCJD cases will occur, with a mean forecast of 2.7 additional cases. Allowing for missed past cases, estimates increased to a mean of 3.0 cases (one missed case) and 4.9 cases (four missed cases). Sensitivity analysis using a Cauchy incubation period distribution rather than a log-normal distribution increased estimates to 6.6, 9.4, and 17.9 cases, respectively. A plausible worse-case scenario, assuming very long incubation times and higher susceptibility in non-MM individuals, projected up to 65 cases of vCJD over coming decades, peaking in the 2030s. Secondary transmission risk remains negligible given transfusion safety measures, including leukodepletion since 1999. Our findings suggest that vCJD is unlikely to re-emerge at significant levels. However, ongoing case ascertainment and scrutiny remains critical due to uncertainties in non-MM incubation and potentially, the emergence of previously unrecognised prion strains. Continued neuropathological case investigation, maintenance of core blood safety policies, and periodic risk reassessments are essential to ensure public health preparedness and avoid unnecessary restrictions. No specific funding other than salaries of the authors.

#5

Isolation of a novel human prion strain from a PRNP codon 129 heterozygous vCJD patient.

PLoS pathogens2025 Feb

The epizootic prion disease of cattle, bovine spongiform encephalopathy (BSE), caused variant Creutzfeldt-Jakob disease (vCJD) in humans following dietary exposure. Codon 129 polymorphism of the human prion protein gene (PRNP), encoding either methionine (M) or valine (V), dictates the propagation of distinct human prion strains and up to now all but one neuropathologically confirmed vCJD patients have had a 129MM genotype. Concordant with this genetic association, transgenic modelling has established that human PrP 129V is incompatible with the vCJD prion strain and that depending on codon 129 genotype, primary human infection with BSE prions may, in addition to vCJD, result in sporadic CJD-like or novel phenotypes. In 2016 we saw the first neuropathologically confirmed case of vCJD in a patient with a codon 129MV genotype. This patient's neuropathology and molecular strain type were pathognomonic of vCJD but their clinical presentation and neuroradiological features were more typical of sporadic CJD, suggestive of possible co-propagation of another prion strain. Here we report the transmission properties of prions from the brain and lymphoreticular tissues of the 129MV vCJD patient. Primary transmissions into transgenic mice expressing human PrP with different codon 129 genotypes mainly produced neuropathological and molecular phenotypes congruent to those observed in the same lines of mice challenged with prions from 129MM vCJD patient brain, indicative that the vCJD prion strain was the dominant propagating prion strain in the patient's brain. Remarkably however, some transgenic mice challenged with 129MV vCJD patient brain propagated a novel prion strain type which at secondary passage was uniformly lethal in mice of all three PRNP codon 129 genotypes after similar short mean incubation periods. These findings establish that cattle BSE prions can trigger the co-propagation of distinct prion strains in humans.

Publicações recentes

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📚 EuropePMC454 artigos no totalmostrando 167

2026

Variant Creutzfeldt-Jakob disease surveillance in Spain, 1993-2021.

Frontiers in public health
2026

Strain Traits of Intracranially Administered L-Type Bovine Spongiform Encephalopathy Prions Are not Significantly Modified During Intraspecies Transmission in Cynomolgus Monkeys.

Microbiology and immunology
2025

Abnormal Prion Protein in Nasal Swab Specimens of Macaques Infected with Creutzfeldt-Jakob Disease.

Emerging infectious diseases
2025

Estimating future variant Creutzfeldt-Jakob disease cases in the UK: a cohort-based probabilistic model.

The Lancet regional health. Europe
2026

Epidemiology of progressive intellectual and neurological deterioration in UK children.

Developmental medicine and child neurology
2025

Human PrP E219K: a new and promising substrate for robust RT-QuIC amplification of human prions with potential for strain discrimination.

Microbiology spectrum
2025

Variant Creutzfeldt-Jakob disease in UK children after 27 years of active prospective surveillance.

Archives of disease in childhood
2025

Removal of deferrals for variant Creutzfeldt-Jakob disease risk: Impact on new and previously deferred donors.

Vox sanguinis
2025

No evidence of subclinical infection in sheep surviving oral challenge with prions.

The Journal of general virology
2025

Bovine spongiform encephalopathy: A review of current knowledge and challenges.

Open veterinary journal
2025

Isolation of a novel human prion strain from a PRNP codon 129 heterozygous vCJD patient.

PLoS pathogens
2024

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

Cureus
2025

Structural characterization of codon 129 polymorphism in prion peptide segments (PrP127-132) using the Markov State Models.

Journal of molecular graphics &amp; modelling
2025

Lack of Evidence for Transmission of Atypical H-Type Bovine Spongiform Encephalopathy Prions (H-BSE Prions) by Intracranial and Oral Challenges to Nonhuman Primates.

Microbiology and immunology
2024

Beta-Amyloid Related Neurodegenerative and Neurovascular Diseases: Potential Implications for Transfusion Medicine.

Transfusion medicine reviews
2024

Screening of Anti-Prion Compounds Using the Protein Misfolding Cyclic Amplification Technology.

Biomolecules
2024

Longitudinal detection of prion infection in preclinical sheep blood samples compared using 3 assays.

Blood
2024

"One a penny, two a penny", I saw the hot cross bun sign".

Clinical imaging
2024

Modelling hepatitis C infection acquired from blood transfusions in the UK between 1970 and 1991 for the Infected Blood Inquiry.

Royal Society open science
2024

Prion diseases, always a threat?

Journal of the neurological sciences
2024

Assessing the risk of transfusion-transmitted variant Creutzfeldt-Jakob disease: a European perspective.

Blood transfusion = Trasfusione del sangue
2024

Interactions between Cytokines and the Pathogenesis of Prion Diseases: Insights and Implications.

Brain sciences
2024

Has the frequency of ABO RhD blood groups in Australian blood donors changed as a result of the removal of the variant Creutzfeldt-Jakob disease-based deferral?

Vox sanguinis
2024

A review of the enhanced CJD surveillance feasibility study in the elderly in Scotland, UK.

BMC geriatrics
2024

Pathology of neurodegenerative disease for the general neurologist.

Practical neurology
2023

Systematic approach to diagnosing suspected Creutzfeldt-Jakob disease.

BMJ case reports
2023

Development of a sensitive real-time quaking-induced conversion (RT-QuIC) assay for application in prion-infected blood.

PloS one
2023

Diagnostic accuracy of diffusion-weighted imaging in variant Creutzfeldt-Jakob disease.

Neuroradiology
2023

Transmission of Variant Creutzfeldt-Jakob Disease Through Blood Transfusion and Plasma-Derived Products: A Narrative Review of Observed and Modeled Risks.

Transfusion medicine reviews
2024

Enhanced Creutzfeldt-Jakob disease surveillance in the older population: Assessment of a protocol for screening brain tissue donations for prion disease.

Brain pathology (Zurich, Switzerland)
2023

Spinocerebellar ataxia-type 34: A case report and brief review of the literature.

Radiology case reports
2023

Low risk of variant Creutzfeldt-Jakob disease transmission from blood transfusions in Aotearoa New Zealand suggests donor exclusion policies can be relaxed.

The New Zealand medical journal
2023

Removal of UK-donor deferral for variant Creutzfeldt-Jakob disease: A large donation gain in Australia.

Vox sanguinis
2023

Kinetics of Abnormal Prion Protein in Blood of Transgenic Mice Experimentally Infected by Multiple Routes with the Agent of Variant Creutzfeldt-Jakob Disease.

Viruses
2023

Prevalence of blood donation eligibility in Australia: A population survey.

Transfusion
2023

Risk of variant Creutzfeldt-Jakob disease in a simulated cohort of Canadian blood donors.

Vox sanguinis
2023

Bovine Spongiform Encephalopathy, "Mad Cow's Disease" and Variant Creutzfeldt-Jakob Disease in Humans: A Critical Update.

Archives of medical research
2023

Conservation of vCJD Strain Properties After Extraction and In Vitro Propagation of PrPSc from Archived Formalin-Fixed Brain and Appendix Tissues Using Highly Sensitive Protein Misfolding Cyclic Amplification.

Molecular neurobiology
2023

Anti-recoverin antibody positive Heidenhain variant CJD: a case report.

Prion
2023

Risk assessment of variant Creutzfeldt-Jakob disease in corneal transplantation.

American journal of ophthalmology case reports
2023

Unexpected decrease of full-length prion protein in macaques inoculated with prion-contaminated blood products.

Frontiers in molecular biosciences
2023

Evaluation of cold atmospheric plasma for the decontamination of flexible endoscopes.

The Journal of hospital infection
2023

Safety profile of plasma for fractionation donated in the United Kingdom, with respect to variant Creutzfeldt-Jakob disease.

Vox sanguinis
2023

The Zoonotic Potential of Chronic Wasting Disease-A Review.

Foods (Basel, Switzerland)
2023

Addition of clobazam successfully treating drug resistant seizures in Heidenhain variant Creutzfeldt Jakob disease: A case report.

Epilepsy &amp; behavior reports
2022

Rapidly Progressive Frontotemporal Dementia With Amyotrophic Lateral Sclerosis in an Elderly Female.

Cureus
2022

Glycans are not necessary to maintain the pathobiological features of bovine spongiform encephalopathy.

PLoS pathogens
2022

The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.

Medicina (Kaunas, Lithuania)
2022

A clinicopathological study of selected cognitive impairment cases in Lothian, Scotland: enhanced CJD surveillance in the 65 + population group.

BMC geriatrics
2022

Abnormal prion protein, infectivity and neurofilament light-chain in blood of macaques with experimental variant Creutzfeldt-Jakob disease.

The Journal of general virology
2023

Blood donor notification of variant Creutzfeldt-Jakob disease risk: Lessons in communicating donor deferral and risk.

Transfusion medicine (Oxford, England)
2022

Risk of variant Creutzfeldt-Jakob disease transmission by blood transfusion in Australia.

Vox sanguinis
2022

Comprehensive clinical, radiological, pathological and biochemical analysis required to differentiate VV1 sporadic Creutzfeldt-Jakob disease from suspected variant CJD.

BMJ neurology open
2022

Clearance of variant Creutzfeldt-Jakob disease prions in vivo by the Hsp70 disaggregase system.

Brain : a journal of neurology
2022

A Case of Rapidly Progressive Dementia.

Cureus
2021

Case Report: Yellow Fever Vaccine-Associated Neurotropic Disease and Associated MRI, EEG, and CSF Findings.

Frontiers in neurology
2022

Body-first Parkinson's disease and variant Creutzfeldt-Jakob disease - similar or different?

Neurobiology of disease
2022

Importation of plasma and use of apheresis platelets as risk reduction measures for variant Creutzfeldt-Jakob disease: The SaBTO review.

Transfusion medicine (Oxford, England)
2021

A Japanese family with P102L Gerstmann-Sträussler-Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report.

eNeurologicalSci
2021

Variant CJD: Reflections a Quarter of a Century on.

Pathogens (Basel, Switzerland)
2021

Human prion disease surveillance in Spain, 1993-2018: an overview.

Prion
2021

Sensitive protein misfolding cyclic amplification of sporadic Creutzfeldt-Jakob disease prions is strongly seed and substrate dependent.

Scientific reports
2021

Preclinical transmission of prions by blood transfusion is influenced by donor genotype and route of infection.

PLoS pathogens
2021

Wide distribution of prion infectivity in the peripheral tissues of vCJD and sCJD patients.

Acta neuropathologica
2021

Improved surveillance of surgical instruments reprocessing following the variant Creutzfeldt-Jakob disease crisis in England: findings from a three-year survey.

The Journal of hospital infection
2020

Isolated Pulvinar/Hockey Stick Sign in Nonalcoholic Wernicke's Encephalopathy.

The American journal of case reports
2020

Exposure Risk of Chronic Wasting Disease in Humans.

Viruses
2020

Improving the Predictive Value of Prion Inactivation Validation Methods to Minimize the Risks of Iatrogenic Transmission With Medical Instruments.

Frontiers in bioengineering and biotechnology
2020

Experimental inoculation of CD11c+ B1 lymphocytes, CD68+ macrophages, or platelet-rich plasma from scrapie-infected sheep into susceptible sheep results in variable infectivity.

Access microbiology
2020

Human Prion Disease Surveillance in Washington State, 2006-2017.

JAMA network open
2021

Differential diagnosis of progressive intellectual and neurological deterioration in children.

Developmental medicine and child neurology
2020

Processing bovine intestinal mucosa to active heparin removes spiked BSE agent.

Biologicals : journal of the International Association of Biological Standardization
2020

Variant Creutzfeldt-Jakob Disease Diagnosed 7.5 Years after Occupational Exposure.

The New England journal of medicine
2020

No Adaptation of the Prion Strain in a Heterozygous Case of Variant Creutzfeldt-Jakob Disease.

Emerging infectious diseases
2020

A case of MV2K subtype of sporadic Creutzfeldt-Jakob disease with florid-like plaques: Similarities and differences to variant Creutzfeldt-Jakob disease.

Neuropathology : official journal of the Japanese Society of Neuropathology
2020

Prevalence in Britain of abnormal prion protein in human appendices before and after exposure to the cattle BSE epizootic.

Acta neuropathologica
2020

Immunotherapy against Prion Disease.

Pathogens (Basel, Switzerland)
2020

PMCA Applications for Prion Detection in Peripheral Tissues of Patients with Variant Creutzfeldt-Jakob Disease.

Biomolecules
2020

Assessment of risk of variant creutzfeldt-Jakob disease (vCJD) from use of bovine heparin.

Pharmacoepidemiology and drug safety
2020

Correlation between Bioassay and Protein Misfolding Cyclic Amplification for Variant Creutzfeldt-Jakob Disease Decontamination Studies.

mSphere
2019

Movement Disorders in Prionopathies: A Systematic Review.

Tremor and other hyperkinetic movements (New York, N.Y.)
2020

Preclinical Detection of Prions in Blood of Nonhuman Primates Infected with Variant Creutzfeldt-Jakob Disease.

Emerging infectious diseases
2019

Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats.

Scientific reports
2019

Atypical clinical presentation of variant Creutzfeldt-Jakob disease.

European journal of anaesthesiology
2019

Role of prion protein glycosylation in replication of human prions by protein misfolding cyclic amplification.

Laboratory investigation; a journal of technical methods and pathology
2019

Tracking and clarifying differential traits of classical- and atypical L-type bovine spongiform encephalopathy prions after transmission from cattle to cynomolgus monkeys.

PloS one
2019

Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes.

Brain : a journal of neurology
2019

PMCA-replicated PrPD in urine of vCJD patients maintains infectivity and strain characteristics of brain PrPD: Transmission study.

Scientific reports
2019

Variant Creutzfeldt-Jakob Disease Presenting as New-onset Psychosis.

Journal of psychiatric practice
2019

Animal prion diseases: the risks to human health.

Brain pathology (Zurich, Switzerland)
2019

Review: Fluid biomarkers in the human prion diseases.

Molecular and cellular neurosciences
2018

Prion pathogenesis is unaltered in a mouse strain with a permeable blood-brain barrier.

PLoS pathogens
2019

Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?

Archives of disease in childhood
2018

Unexpected prion phenotypes in experimentally transfused animals: predictive models for humans?

Prion
2018

[Human prion diseases: current issues].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2018

Detection of PrPres in peripheral tissue in pigs with clinical disease induced by intracerebral challenge with sheep-passaged bovine spongiform encephalopathy agent.

PloS one
2018

Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification.

Emerging infectious diseases
2018

The zoonotic potential of animal prion diseases.

Handbook of clinical neurology
2018

Variant Creutzfeldt-Jakob disease.

Handbook of clinical neurology
2018

Chronic wasting disease: an evolving prion disease of cervids.

Handbook of clinical neurology
2018

Atypical and classic bovine spongiform encephalopathy.

Handbook of clinical neurology
2018

Rapid amplification of prions from variant Creutzfeldt-Jakob disease cerebrospinal fluid.

The journal of pathology. Clinical research
2018

Reducing the risk of iatrogenic Creutzfeldt-Jakob disease by improving the cleaning of neurosurgical instruments.

The Journal of hospital infection
2018

Both murine host and inoculum modulate expression of experimental variant Creutzfeldt-Jakob disease.

The Journal of general virology
2018

Experimental sheep BSE prions generate the vCJD phenotype when serially passaged in transgenic mice expressing human prion protein.

Journal of the neurological sciences
2017

Differential overexpression of SERPINA3 in human prion diseases.

Scientific reports
2017

Experimental transfusion of variant CJD-infected blood reveals previously uncharacterised prion disorder in mice and macaque.

Nature communications
2017

Methods for Molecular Diagnosis of Human Prion Disease.

Methods in molecular biology (Clifton, N.J.)
2017

Transmission and Replication of Prions.

Progress in molecular biology and translational science
2017

Similarities of Variant Creutzfeldt-Jakob Disease Strain in Mother and Son in Spain to UK Reference Case.

Emerging infectious diseases
2017

Protective Effect of Val129-PrP against Bovine Spongiform Encephalopathy but not Variant Creutzfeldt-Jakob Disease.

Emerging infectious diseases
2017

Infectivity in bone marrow from sporadic CJD patients.

The Journal of pathology
2017

Disinfection of Tonometers: A Report by the American Academy of Ophthalmology.

Ophthalmology
2017

Distribution and Quantitative Estimates of Variant Creutzfeldt-Jakob Disease Prions in Tissues of Clinical and Asymptomatic Patients.

Emerging infectious diseases
2017

Sporadic Creutzfeldt-Jakob Disease in 2 Plasma Product Recipients, United Kingdom.

Emerging infectious diseases
2017

Creutzfeldt-Jakob disease lookback study: 21 years of surveillance for transfusion transmission risk.

Transfusion
2017

Evaluation of rapid post-mortem test kits for bovine spongiform encephalopathy (BSE) screening in Japan: Their analytical sensitivity to atypical BSE prions.

Prion
2017

Modeling Variant Creutzfeldt-Jakob Disease and Its Pathogenesis in Non-human Primates.

Food safety (Tokyo, Japan)
2017

Geographic exposure risk of variant Creutzfeldt-Jakob disease in US blood donors: a risk-ranking model to evaluate alternative donor-deferral policies.

Transfusion
2017

Detection and partial discrimination of atypical and classical bovine spongiform encephalopathies in cattle and primates using real-time quaking-induced conversion assay.

PloS one
2018

Molecular Mechanisms of Chronic Wasting Disease Prion Propagation.

Cold Spring Harbor perspectives in medicine
2018

Variant Creutzfeldt-Jakob disease deferral in Canada: impact of stop dates.

Blood transfusion = Trasfusione del sangue
2017

A Heparin Purification Process Removes Spiked Transmissible Spongiform Encephalopathy Agent.

The AAPS journal
2017

Variant Creutzfeldt-Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129.

The New England journal of medicine
2016

Detection of prions in blood from patients with variant Creutzfeldt-Jakob disease.

Science translational medicine
2016

Detection of prions in the plasma of presymptomatic and symptomatic patients with variant Creutzfeldt-Jakob disease.

Science translational medicine
2016

Pathogenesis and Transmission of Classical and Atypical BSE in Cattle.

Food safety (Tokyo, Japan)
2016

Prion Diseases in Animals and Zoonotic Potential.

Food safety (Tokyo, Japan)
2016

Absence of Evidence for a Causal Link between Bovine Spongiform Encephalopathy Strain Variant L-BSE and Known Forms of Sporadic Creutzfeldt-Jakob Disease in Human PrP Transgenic Mice.

Journal of virology
2016

A case cluster of variant Creutzfeldt-Jakob disease linked to the Kingdom of Saudi Arabia.

Brain : a journal of neurology
2016

Prion diseases: immunotargets and therapy.

ImmunoTargets and therapy
2016

Are prions transported by plasma exosomes?

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2016

Guinea Pig Prion Protein Supports Rapid Propagation of Bovine Spongiform Encephalopathy and Variant Creutzfeldt-Jakob Disease Prions.

Journal of virology
2016

Ten-year follow-up of two cohorts with an increased risk of variant CJD: donors to individuals who later developed variant CJD and other recipients of these at-risk donors.

Vox sanguinis
2016

Clinical Issues-May 2016.

AORN journal
2016

Persistent residual contamination in endoscope channels; a fluorescence epimicroscopy study.

Endoscopy
2016

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011.

PloS one
2016

Whole Blood Gene Expression Profiling in Preclinical and Clinical Cattle Infected with Atypical Bovine Spongiform Encephalopathy.

PloS one
2016

Meeting Report: 2015 PDA Virus & TSE Safety Forum.

PDA journal of pharmaceutical science and technology
2016

Rapid and Highly Sensitive Detection of Variant Creutzfeldt-Jakob Disease Abnormal Prion Protein on Steel Surfaces by Protein Misfolding Cyclic Amplification: Application to Prion Decontamination Studies.

PloS one
2016

Mononucleated Blood Cell Populations Display Different Abilities To Transmit Prion Disease by the Transfusion Route.

Journal of virology
2015

The end of the BSE saga: do we still need surveillance for human prion diseases?

Swiss medical weekly
2016

Creutzfeldt-Jakob disease and blood transfusion: updated results of the UK Transfusion Medicine Epidemiology Review Study.

Vox sanguinis
2017

Donating blood for research: a potential method for enhancing customer satisfaction of permanently deferred blood donors.

Blood transfusion = Trasfusione del sangue
2015

Preclinical detection of infectivity and disease-specific PrP in blood throughout the incubation period of prion disease.

Scientific reports
2015

Overview and evaluation of 15 years of Creutzfeldt-Jakob disease surveillance in Belgium, 1998-2012.

BMC neurology
2015

Live kidney donation from a person with haemophilia.

BMJ case reports
2016

Blood transmission studies of prion infectivity in the squirrel monkey (Saimiri sciureus): the Baxter study.

Transfusion
2015

Methods for Differentiating Prion Types in Food-Producing Animals.

Biology
2015

The Canadian Management of Bovine Spongiform Encephalopathy in Historical and Scientific Perspective, 1990-2014.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2016

Efficient propagation of variant Creutzfeldt-Jakob disease prion protein using the cell-protein misfolding cyclic amplification technique with samples containing plasma and heparin.

Transfusion
2015

An inventory of concerns behind blood safety policies in five Western countries.

Transfusion
2015

Transmission of scrapie prions to primate after an extended silent incubation period.

Scientific reports
2015

Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains.

PLoS pathogens
2015

Donor Recruitment for Fecal Microbiota Transplantation.

Inflammatory bowel diseases
2015

A prion reduction filter does not completely remove endogenous prion infectivity from sheep blood.

Transfusion
2015

The transmissible spongiform encephalopathies of livestock.

ILAR journal
2015

Comparative quantitative study of 'signature' pathological lesions in the hippocampus and adjacent gyri of 12 neurodegenerative disorders.

Journal of neural transmission (Vienna, Austria : 1996)
2015

Recent US Case of Variant Creutzfeldt-Jakob Disease-Global Implications.

Emerging infectious diseases
2015

Foodborne-Transmitted Prions From the Brain of Cows With Bovine Spongiform Encephalopathy Ascend in Afferent Neurons to the Simian Central Nervous System and Spread to Tonsils and Spleen at a Late Stage of the Incubation Period.

The Journal of infectious diseases
2015

Removal of transmissible spongiform encephalopathy prion from large volumes of cell culture media supplemented with fetal bovine serum by using hollow fiber anion-exchange membrane chromatography.

PloS one
2015

MRI detection of prion protein plaques in variant Creutzfeldt-Jakob disease.

Neurology
2015

Rare structural genetic variation in human prion diseases.

Neurobiology of aging
2015

Generation of a persistently infected MDBK cell line with natural bovine spongiform encephalopathy (BSE).

PloS one
2015

Evaluation of the protection of primates transfused with variant Creutzfeldt-Jakob disease-infected blood products filtered with prion removal devices: a 5-year update.

Transfusion
2015

Susceptibility of European red deer (Cervus elaphus elaphus) to alimentary challenge with bovine spongiform encephalopathy.

PloS one
2015

Variant Creutzfeldt-Jakob disease in older patients.

Journal of neurology, neurosurgery, and psychiatry
Ver todos os 454 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Epidemiology of progressive intellectual and neurological deterioration in UK children.
    Developmental medicine and child neurology· 2026· PMID 41024403mais citado
  2. Variant Creutzfeldt-Jakob disease surveillance in Spain, 1993-2021.
    Frontiers in public health· 2026· PMID 41853150mais citado
  3. Strain Traits of Intracranially Administered L-Type Bovine Spongiform Encephalopathy Prions Are not Significantly Modified During Intraspecies Transmission in Cynomolgus Monkeys.
    Microbiology and immunology· 2026· PMID 41555693mais citado
  4. Estimating future variant Creutzfeldt-Jakob disease cases in the UK: a cohort-based probabilistic model.
    The Lancet regional health. Europe· 2025· PMID 41466604mais citado
  5. Isolation of a novel human prion strain from a PRNP codon 129 heterozygous vCJD patient.
    PLoS pathogens· 2025· PMID 39977481mais citado
  6. Early diagnosis of a case of Heidenhain variant of Creutzfeld-Jakob disease by cerebrospinal fluid real-time quaking-induced conversion test.
    Prion· 2026· PMID 41894154recente
  7. Abnormal Prion Protein in Nasal Swab Specimens of Macaques Infected with Creutzfeldt-Jakob Disease.
    Emerg Infect Dis· 2025· PMID 41490576recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:576370(Orphanet)
  2. MONDO:0007012(MONDO)
  3. GARD:9550(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Variante da doença Creutzfeldt-Jakob
Compêndio · Raras BR

Variante da doença Creutzfeldt-Jakob

ORPHA:576370 · MONDO:0007012
Prevalência
<1 / 1 000 000
Casos
233 casos conhecidos
CID-10
A81.0 · Doença de Creutzfeldt-Jakob
CID-11
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0376329
EuropePMC
Wikipedia
Papers 10a
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