Doenças priônicas são um grupo de problemas de saúde raros e transmissíveis que causam danos neurológicos que pioram com o tempo e debilitam a pessoa, porque o cérebro fica com aspecto de esponja. Infelizmente, são sempre fatais. Todas essas doenças acontecem quando uma proteína priônica anormal se acumula no sistema nervoso central, e o sistema de defesa do corpo (imunológico) não consegue combatê-la. A doença de Creutzfeldt-Jakob esporádica (DCJ) é a forma mais comum, correspondendo a cerca de 85% dos casos de doenças priônicas. Outras formas de doenças priônicas são genéticas (hereditárias), representando 5% a 15% dos casos. Elas incluem a DCJ hereditária, a insônia familiar fatal (IFF) e a doença priônica familiar tipo Alzheimer. Já as formas adquiridas (que a pessoa pega, menos de 5%) incluem a DCJ iatrogênica e a DCJ variante (vDCJ).
Introdução
O que você precisa saber de cara
Doenças priônicas são um grupo de problemas de saúde raros e transmissíveis que causam danos neurológicos que pioram com o tempo e debilitam a pessoa, porque o cérebro fica com aspecto de esponja. Infelizmente, são sempre fatais. Todas essas doenças acontecem quando uma proteína priônica anormal se acumula no sistema nervoso central, e o sistema de defesa do corpo (imunológico) não consegue combatê-la. A doença de Creutzfeldt-Jakob esporádica (DCJ) é a forma mais comum, correspondendo a cerca de 85% dos casos de doenças priônicas. Outras formas de doenças priônicas são genéticas (hereditárias), representando 5% a 15% dos casos. Elas incluem a DCJ hereditária, a insônia familiar fatal (IFF) e a doença priônica familiar tipo Alzheimer. Já as formas adquiridas (que a pessoa pega, menos de 5%) incluem a DCJ iatrogênica e a DCJ variante (vDCJ).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
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Linha do tempo da pesquisa
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Genética e causas
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Genes associados
1 gene identificado com associação a esta condição.
Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also
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Publicações mais relevantes
Human Prion Disease: Pathogenesis, Diagnosis and Public Health.
Background: Prion diseases represent a group of rare, progressive, and invariably fatal neurodegenerative disorders. Their hallmark is the infectious nature of the misfolded prion protein (PrP^Sc), which propagates by inducing conformational changes in the physiological form (PrP^C). Despite advances in basic science, these disorders still pose major clinical and therapeutic challenges. Methods: A narrative review of the scientific literature was conducted across major biomedical databases, including PubMed, Scopus, Web of Science, and Google Scholar, covering publications up to January 2025. In addition, we describe an illustrative clinical case of a young patient with probable iatrogenic Creutzfeldt-Jakob disease following corneal transplantation, used to highlight diagnostic uncertainty and infection-control implications. Findings: Evidence confirms that PrP^Sc drives neurodegenerative processes and transmissibility, with phenotypic and genetic variants influencing clinical course and prognosis. From a diagnostic perspective, neuroimaging techniques and cerebrospinal fluid biomarkers have undergone substantial refinement, with RT-QuIC emerging as a highly specific and sensitive assay. Therapeutic options remain unsatisfactory: no treatment has shown a significant impact on survival. However, innovative strategies (including monoclonal antibodies, gene-based interventions, and modulation of PrP^C) represent promising avenues of investigation. Conclusions: Prion diseases remain an unresolved challenge at the intersection of neurology and infectious diseases. Earlier diagnosis through advanced biomarkers and continued development of targeted therapies are essential to improve patient management, while the persistence of iatrogenic cases underscores the ongoing relevance of surveillance and preventive strategies in clinical practice.
Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.
Creutzfeldt-Jakob disease (CJD), the most common human prion disease, is an invariably fatal neurodegenerative disorder affecting 1.5 cases per million individuals per year. About 10-15% of the human prion diseases are caused by a pathogenic variant in the prion protein (PrP) gene (PRNP), and the most common genetic human prion disease is CJD (gCJD) linked to a glutamic acid to lysine substitution at codon 200 (E200K) of PRNP. The polymorphic codon 129 methionine (M)/valine (V) genotype has a strong effect on disease phenotype. In the present study, we retrospectively evaluated many features of gCJD E200K cases with respect to the 129MV polymorphism, type of scrapie prion protein (PrPSc), demographic, clinical, laboratory, histopathology, and molecular features, including western blot examination and real-time quaking-induced conversion assay. Analyses were also performed to determine statistically significant features between E200K haplotypes (e.g., codon 129 genotype in cis with the mutated allele) and codon 129 genotypes. This study found that codon 129 polymorphism affects several disease features of gCJD E200K. Specifically, histopathologic differences were found between patients with different 129 haplotypes and genotypes. We have identified five groups or subtypes of E200K associated with either PrPSc type 1 or 2. Other E200K cases showed mixed (i) PrPSc types or (ii) pathological features of 129 M and 129 V haplotypes. To our knowledge, this study describes the largest cohort of 177 E200K cases and provides new insight into the wide range of phenotypes associated with this common CJD genetic variant.
Gerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.
Gerstmann-Sträussler-Scheinker syndrome is an extremely rare hereditary human prion disease caused by distinct mutations in the prion protein-encoding gene and is frequently associated with a positive family history. The disease typically presents with progressive cerebellar symptoms such as gaze apraxia with limb ataxia and axial ataxia; thus, the diagnostic process is often challenging due to nonspecific clinical presentation. We present a case of a 73-year-old patient with no family history of dementia and cerebellar symptomatology during the course of rapidly progressing dementia. Owing to the clinical suspicion of prion disease, antemortem analysis of cerebrospinal fluid using a real-time quaking-induced conversion (RT-QuIC) assay was performed, with positive results. Postmortem histopathological examination confirmed a familiar form of human prion disease with concomitant asymptomatic tauopathy. An additional finding was a novel 6 octapeptide repeat insertion mutation in the prion gene. Familiar cases with an increasing number of repeated insertions seem to be associated with a longer overall disease course, milder clinical deterioration and often false-negative RT-QuIC results. The performance of RT-QuIC in inherited prion diseases may vary. Our case, involving a 6 octapeptide repeat insertion mutation, is particularly noteworthy due to the rapidly progressive clinical course and positive RT-QuIC results in both antemortem and postmortem tissue analyses.
Clinical phenotype associated with A118V mutation of PRPN gene.
Creutzfeldt-Jakob disease (CJD) is the most common human prion disease, with genetic forms linked to PRNP gene mutations accounting for 10-15% of cases. We present a case of probable genetic prion disease associated with a novel PRNP mutation. A previously healthy 60-year-old woman developed gait ataxia and micrographia. Six months later, she experienced severe anxiety, emotional lability, and visual hallucinations. Brain magnetic resonance imaging (MRI) showed cortical ribboning in the frontal-insular regions. Her condition progressed to walking dependence and cerebellar dysarthria. She died 15 months after symptom onset. CSF analysis revealed elevated total-Tau (1933 pg/mL; reference < 450 pg/mL). RT-QuIC assay using full-length recombinant PrP was negative. Genetic testing revealed a Met/Val polymorphism at codon 129 and a novel heterozygous A118V mutation in the PRNP gene. A second RT-QuIC using truncated PrP confirmed abnormal prion seeds, supporting a probable diagnosis of prion disease. The compound heterozygous A118V and M129V PRNP variant had not previously been associated with prion disease. Family history was unobtainable, as relatives declined testing. The patient's presentation-cerebellar and psychiatric symptoms-resembled Gerstmann-Sträussler-Scheinker syndrome, though a definitive diagnosis was not possible without neuropathology. MRI and RT-QuIC findings supported prion disease. The positive result with truncated PrP highlights its diagnostic value, offering improved sensitivity. This case underscores the phenotypic diversity of PRNP mutations and the importance of molecular testing, especially when family history or neuropathology is unavailable. PRNP gene analysis should be considered in patients with rapidly progressive motor and cognitive symptoms suggestive of prion disease.
Creutzfeldt-Jakob disease mimicking limbic encephalitis as a cause of rapid neurological deterioration.
A broad range of inflammatory and neurodegenerative conditions manifest with progressive cognitive and behavioural changes. A diagnostic challenge is the differentiation of limbic encephalitis (LE) from Creutzfeldt-Jakob disease (CJD). LE and CJD are distinct neurological conditions with distinct variations in their clinical course, with overlapping clinical presentations. LE can be subdivided into autoimmune paraneoplastic and non-paraneoplastic subtypes, under the umbrella of autoimmune LE. CJD is the most prevalent form of human prion disease and the subtype sporadic CJD (sCJD) the most common. This case study presents a 68-year-old man with a 6-week history of progressive cognitive decline and behavioural changes, ultimately leading to a dire clinical state. The initial symptoms included confusion, intermittent headaches and episodes of aggression towards his wife, preceded by 2 weeks of visual hallucinations. On examination, the patient displayed an ataxic gait, with signs of cerebellar dysfunction. The clinical course evolved, marked by myoclonic jerks, culminating in a decline in both his Glasgow Coma Scale (GCS) score and overall clinical status. The patient's rapidly deteriorating condition over 6 weeks was thought to be too rapid for sCJD, and the patient was treated initially as an LS. However, post-mortem biopsy findings confirmed CJD. Asymmetric periodic discharges on EEG, asymmetric neuroimaging changes and the manifestation of psychiatric symptoms should not preclude the diagnosis of sCJD. This case highlights the importance of recognising the potential rapid deterioration of sCJD, which would alert clinicians to earlier diagnosis and management.
Publicações recentes
Unusual occurrence of temporo-spatial cluster of human prion disease in northern part of central Slovakia.
Human Prion Disease: Pathogenesis, Diagnosis and Public Health.
Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.
Gerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.
A noninvasive test for human prion disease using hair roots and scalp.
📚 EuropePMC91 artigos no totalmostrando 167
Human Prion Disease: Pathogenesis, Diagnosis and Public Health.
VirusesGenetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.
Acta neuropathologicaGerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.
Revue neurologiqueA noninvasive test for human prion disease using hair roots and scalp.
Scientific reportsCreutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2024.
Communicable diseases intelligence (2018)Clinical phenotype associated with A118V mutation of PRPN gene.
Journal of neurologyPrion replication in organotypic brain slice cultures is distinct from in vivo inoculation and is species dependent.
Acta neuropathologica communicationsPrP C -induced signaling in human neurons activates phospholipase Cɣ1 and an Arc/Arg3.1 response.
bioRxiv : the preprint server for biologyCreutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2023.
Communicable diseases intelligence (2018)Creutzfeldt-Jakob disease mimicking limbic encephalitis as a cause of rapid neurological deterioration.
BMJ neurology openPathological spectrum of sporadic Creutzfeldt-Jakob disease.
PathologyCharacterization of variably protease-sensitive prionopathy by capillary electrophoresis.
Scientific reportsSodium hypochlorite inactivation of human CJD prions.
PloS oneConvergent generation of atypical prions in knockin mouse models of genetic prion disease.
The Journal of clinical investigationEvaluation and Limitations of the Novel Chemiluminescent Enzyme Immunoassay Technique for Measuring Total Tau Protein in the Cerebrospinal Fluid of Patients with Human Prion Disease: A 10-Year Prospective Study (2011-2020).
Diagnostics (Basel, Switzerland)Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease.
Frontiers in neurologyNeuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
Acta neuropathologicaNeuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
bioRxiv : the preprint server for biologyUpdated global epidemiology atlas of human prion diseases.
Frontiers in public healthSigma Receptor Ligands Are Potent Antiprion Compounds that Act Independently of Sigma Receptor Binding.
ACS chemical neuroscienceEuphoric Presentation in Creutzfeldt-Jakob Disease and Its Diagnostic Implications: A Case Report.
CureusDetection limitations of prion seeding activities in blood samples from patients with sporadic prion disease.
BMC neurologyKuru Disease: Bridging the Gap Between Prion Biology and Human Health.
CureusA Study of Clinical Profile, Radiological and Electroencephalographic Characteristics of Sporadic Creutzfeldt-Jakob Disease From a Tertiary Care Hospital.
CureusSigma receptor ligands are potent anti-prion compounds that act independently of sigma receptor binding.
bioRxiv : the preprint server for biologyNeural cell engraftment therapy for sporadic Creutzfeldt-Jakob disease restores neuroelectrophysiological parameters in a cerebral organoid model.
Stem cell research & therapyRapidly Progressive Dementia in an Elderly Male: Perseverance Becomes the Key to a Rare Diagnosis.
CureusCharacterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6.
Neurobiology of diseaseTwo Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene.
PrionElevated E200K Somatic Mutation of the Prion Protein Gene (PRNP) in the Brain Tissues of Patients with Sporadic Creutzfeldt-Jakob Disease (CJD).
International journal of molecular sciencesEnhanced Creutzfeldt-Jakob disease surveillance in the older population: Assessment of a protocol for screening brain tissue donations for prion disease.
Brain pathology (Zurich, Switzerland)Creutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2022.
Communicable diseases intelligence (2018)Human prion disease: molecular pathogenesis, and possible therapeutic targets and strategies.
Expert opinion on therapeutic targetsUnexpected decrease of full-length prion protein in macaques inoculated with prion-contaminated blood products.
Frontiers in molecular biosciencesA novel subtype of sporadic Creutzfeldt-Jakob disease with PRNP codon 129MM genotype and PrP plaques.
Acta neuropathologicaDifferentiated cultures of an immortalized human neural progenitor cell line do not replicate prions despite PrPC overexpression.
PrionThe Zoonotic Potential of Chronic Wasting Disease-A Review.
Foods (Basel, Switzerland)Sporadic Creutzfeldt-Jakob disease infected human cerebral organoids retain the original human brain subtype features following transmission to humanized transgenic mice.
Acta neuropathologica communicationsRole of different recombinant PrP substrates in the diagnostic accuracy of the CSF RT-QuIC assay in Creutzfeldt-Jakob disease.
Cell and tissue researchSporadic Creutzfeldt-Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance.
Journal of neurologyCharacteristics of Different Types of Prion Diseases - China's Surveillance.
China CDC weeklyEstablishment of a Special Platform for the Research of Prion and the Diagnosis of Human Prion Disease - China's Studies.
China CDC weeklyGenetic aspects of human prion diseases.
Frontiers in neurologySARS-CoV-2 Invasion and Pathological Links to Prion Disease.
BiomoleculesCharacteristic distribution and molecular properties of normal cellular prion protein in human endocrine and exocrine tissues.
Scientific reportsTransmission of cervid prions to humanized mice demonstrates the zoonotic potential of CWD.
Acta neuropathologicaCreutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2021.
Communicable diseases intelligence (2018)Sporadic Creutzfeldt-Jakob Disease in a Patient With Multiple Sclerosis: A Case Report.
CureusSporadic Creutzfeldt-Jakob disease VM1: phenotypic and molecular characterization of a novel subtype of human prion disease.
Acta neuropathologica communicationsDevelopment of prognostic models for survival and care status in sporadic Creutzfeldt-Jakob disease.
Brain communicationsCase Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia.
Frontiers in neurologyMinimal change prion retinopathy: Morphometric comparison of retinal and brain prion deposits in Creutzfeldt-Jakob disease.
Experimental eye researchPrion protein gene mutation detection using long-read Nanopore sequencing.
Scientific reportsRapidly Progressive Probable Sporadic Creutzfeldt-Jakob Disease.
CureusClearance of variant Creutzfeldt-Jakob disease prions in vivo by the Hsp70 disaggregase system.
Brain : a journal of neurologyPrion protein monoclonal antibody (PRN100) therapy for Creutzfeldt-Jakob disease: evaluation of a first-in-human treatment programme.
The Lancet. NeurologyCSF biomarkers for prion diseases.
Neurochemistry internationalComparison of cerebrospinal fluid tau, ptau(181), synuclein, and 14-3-3 for the detection of Creutzfeldt-Jakob disease in clinical practice.
Journal of neural transmission (Vienna, Austria : 1996)Validation and Application of Skin RT-QuIC to Patients in China with Probable CJD.
Pathogens (Basel, Switzerland)Variant CJD: Reflections a Quarter of a Century on.
Pathogens (Basel, Switzerland)Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Alzheimer's research & therapySporadic Creutzfeldt-Jakob Disease in a Very Young Person.
NeurologyCreutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2020.
Communicable diseases intelligence (2018)Fatal insomnia: the elusive prion disease.
BMJ case reportsStructurally distinct external solvent-exposed domains drive replication of major human prions.
PLoS pathogensHuman prion disease surveillance in Spain, 1993-2018: an overview.
PrionClarence J. Gibbs Effect and the "Creutzfeldt-Jakob Disease" Eponym.
NeurologyThe importance of ongoing international surveillance for Creutzfeldt-Jakob disease.
Nature reviews. NeurologyGenetic Risk Factors of Creutzfeldt-Jakob Disease in the Population of Newborns in Slovakia.
Pathogens (Basel, Switzerland)1H, 13C, 15N backbone and side-chain resonance assignments of the pathogenic G131V mutant of human prion protein (91-231).
Biomolecular NMR assignmentsMedial Temporal Lobe Involvement in Human Prion Diseases: Implications for the Study of Focal Non Prion Neurodegenerative Pathology.
BiomoleculesDistribution of microRNA profiles in pre-clinical and clinical forms of murine and human prion disease.
Communications biologyPreclinical transmission of prions by blood transfusion is influenced by donor genotype and route of infection.
PLoS pathogensWide distribution of prion infectivity in the peripheral tissues of vCJD and sCJD patients.
Acta neuropathologicaExposure Risk of Chronic Wasting Disease in Humans.
VirusesCreutzfeldt-Jakob Disease With Atypical Magnetic Resonance Imaging Features.
CureusCerebellar Vertigo as an Unspecific Initial Presentation of Creutzfeldt-Jakob Disease.
The American journal of case reportsApplication of telehealth for comprehensive Creutzfeldt-Jakob disease surveillance in the United Kingdom.
Journal of the neurological sciencesSporadic Creutzfeldt-Jakob disease with tau pathology mimicking new-onset refractory non-convulsive status epilepticus: Case report and review of the literature.
European journal of neurologyHuman Prion Disease Surveillance in Washington State, 2006-2017.
JAMA network openClinical diagnosis of human prion disease.
Progress in molecular biology and translational scienceIdentification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
The Lancet. NeurologyAltered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease.
Acta neuropathologicaA Rare Case of Creutzfeldt-Jakob Disease in an 80-Year-Old Male.
CureusPrion-associated cerebral amyloid angiopathy is not exacerbated by human phosphorylated tau aggregates in scrapie-infected mice expressing anchorless prion protein.
Neurobiology of diseaseGenetic and evolutionary considerations of the Chronic Wasting Disease - Human species barrier.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseasesTowards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids.
Acta neuropathologica communicationsCreutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2019.
Communicable diseases intelligence (2018)Recent developments in antibody therapeutics against prion disease.
Emerging topics in life sciencesThe protean prion protein.
PLoS biologyGenetic risk factors for Creutzfeldt-Jakob disease.
Neurobiology of diseaseFirst Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.
International journal of molecular sciencesTransmission characteristics of heterozygous cases of Creutzfeldt-Jakob disease with variable abnormal prion protein allotypes.
Acta neuropathologica communicationsSpontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS.
PLoS biologyAdministration of FK506 from Late Stage of Disease Prolongs Survival of Human Prion-Inoculated Mice.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsCreutzfeldt-Jakob Disease Presenting as Posterior Reversible Encephalopathy Syndrome.
CureusCSF Ubiquitin Levels Are Higher in Alzheimer's Disease than in Frontotemporal Dementia and Reflect the Molecular Subtype in Prion Disease.
BiomoleculesPMCA Applications for Prion Detection in Peripheral Tissues of Patients with Variant Creutzfeldt-Jakob Disease.
BiomoleculesCSF biomarkers of neuroinflammation in distinct forms and subtypes of neurodegenerative dementia.
Alzheimer's research & therapyAn enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD.
PrionUsing our mini-brains: cerebral organoids as an improved cellular model for human prion disease.
Neural regeneration researchStudy protocol for enhanced CJD surveillance in the 65+ years population group in Scotland: an observational neuropathological screening study of banked brain tissue donations for evidence of prion disease.
BMJ openIntroduction to Current Progress in Advanced Research on Prions.
Current issues in molecular biologyOsmolytes ameliorate the effects of stress in the absence of the heat shock protein Hsp104 in Saccharomyces cerevisiae.
PloS oneRNA editing alterations define manifestation of prion diseases.
Proceedings of the National Academy of Sciences of the United States of America[Prion induced spongiform encephalopathy of Creutzfeldt-Jakob disease].
Revista medica de ChileCreutzfeldt-Jakob disease surveillance in Australia: update to 31 December 2018.
Communicable diseases intelligence (2018)Clinical Laboratory Tests Used To Aid in Diagnosis of Human Prion Disease.
Journal of clinical microbiologyCreutzfeldt–Jakob disease surveillance in Australia: update to December 2017.
Communicable diseases intelligence (2018)Sporadic Creutzfeldt-Jakob disease prion infection of human cerebral organoids.
Acta neuropathologica communicationsPrion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.
Proceedings of the National Academy of Sciences of the United States of AmericaUnderstanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.
VirusesKuru, the First Human Prion Disease.
VirusesOxidative and Inflammatory Events in Prion Diseases: Can They Be Therapeutic Targets?
Current aging scienceClinics in diagnostic imaging (193). Sporadic Creutzfeldt-Jakob disease (sCJD).
Singapore medical journalClinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.
Acta neuropathologica communicationsRecent advances in the histo-molecular pathology of human prion disease.
Brain pathology (Zurich, Switzerland)Animal prion diseases: the risks to human health.
Brain pathology (Zurich, Switzerland)Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease.
Molecular neurobiologyRapidly Progressing Sporadic Creutzfeldt-Jakob Disease Presenting as a Stroke.
Case reports in neurologyCerebrospinal fluid neurofilament light in suspected sporadic Creutzfeldt-Jakob disease.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaCrossed cerebellar diaschisis in Creutzfeldt-Jakob disease evaluated through single photon emission computed tomography.
Journal of the neurological sciencesA systematic review comparing the diagnostic value of 14-3-3 protein in the cerebrospinal fluid, RT-QuIC and RT-QuIC on nasal brushing in sporadic Creutzfeldt-Jakob disease.
Acta neurologica BelgicaExperimental models of human prion diseases and prion strains.
Handbook of clinical neurologyThe zoonotic potential of animal prion diseases.
Handbook of clinical neurologyDifferential diagnosis with other rapid progressive dementias in human prion diseases.
Handbook of clinical neurologyPrion protein amplification techniques.
Handbook of clinical neurologyVariant Creutzfeldt-Jakob disease.
Handbook of clinical neurologySporadic Creutzfeldt-Jakob disease.
Handbook of clinical neurologyAtypical and classic bovine spongiform encephalopathy.
Handbook of clinical neurologyArtificial strain of human prions created in vitro.
Nature communicationsFatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review.
MedicineIdentification of Alprenolol Hydrochloride as an Anti-prion Compound Using Surface Plasmon Resonance Imaging.
Molecular neurobiologyPrion infectivity is encoded exclusively within the structure of proteinase K-resistant fragments of synthetically generated recombinant PrPSc.
Acta neuropathologica communicationsCerebrospinal Fluid Prion Disease Biomarkers in Pre-clinical and Clinical Naturally Occurring Scrapie.
Molecular neurobiologyPrion seeding activity and infectivity in skin samples from patients with sporadic Creutzfeldt-Jakob disease.
Science translational medicineHuman stem cell-derived astrocytes replicate human prions in a PRNP genotype-dependent manner.
The Journal of experimental medicineMolecular Subtyping of PrPres in Human Sporadic CJD Brain Tissue.
Methods in molecular biology (Clifton, N.J.)Methods for Molecular Diagnosis of Human Prion Disease.
Methods in molecular biology (Clifton, N.J.)Real-Time Quaking-Induced Conversion for Diagnosis of Prion Disease.
Methods in molecular biology (Clifton, N.J.)Cell Biology of Prion Protein.
Progress in molecular biology and translational scienceNeuropathology of Human Prion Diseases.
Progress in molecular biology and translational scienceInfectious and Sporadic Prion Diseases.
Progress in molecular biology and translational sciencePrP P102L and Nearby Lysine Mutations Promote Spontaneous In Vitro Formation of Transmissible Prions.
Journal of virologyGenetic human prion disease modelled in PrP transgenic Drosophila.
The Biochemical journalAltered Ca2+ homeostasis induces Calpain-Cathepsin axis activation in sporadic Creutzfeldt-Jakob disease.
Acta neuropathologica communicationsValidation of α-Synuclein as a CSF Biomarker for Sporadic Creutzfeldt-Jakob Disease.
Molecular neurobiologyCreutzfeldt-Jakob Disease Presenting as Stroke: A Case Report and Systematic Literature Review.
The neurologistLack of germline mutation at codon 211 of the prion protein gene (PRNP) in Korean native cattle - Short communication.
Acta veterinaria HungaricaDetection of prions in the plasma of presymptomatic and symptomatic patients with variant Creutzfeldt-Jakob disease.
Science translational medicineDiagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples.
JAMA neurologyUK Iatrogenic Creutzfeldt-Jakob disease: investigating human prion transmission across genotypic barriers using human tissue-based and molecular approaches.
Acta neuropathologicaA Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Case reports in neurological medicineActivation of the unfolded protein response and granulovacuolar degeneration are not common features of human prion pathology.
Acta neuropathologica communicationsThe real-time quaking-induced conversion assay for detection of human prion disease and study of other protein misfolding diseases.
Nature protocolsReelin Expression in Creutzfeldt-Jakob Disease and Experimental Models of Transmissible Spongiform Encephalopathies.
Molecular neurobiologyProteome Analysis of Potential Synaptic Vesicle Cycle Biomarkers in the Cerebrospinal Fluid of Patients with Sporadic Creutzfeldt-Jakob Disease.
Molecular neurobiologyRole of the biomarkers for the diagnosis of Creutzfeldt-Jakob disease.
Journal of medicine and lifeTau pathology in Creutzfeldt-Jakob disease revisited.
Brain pathology (Zurich, Switzerland)Towards authentic transgenic mouse models of heritable PrP prion diseases.
Acta neuropathologicaBlood transmission studies of prion infectivity in the squirrel monkey (Saimiri sciureus): the Baxter study.
TransfusionInherited mtDNA variations are not strong risk factors in human prion disease.
Neurobiology of agingTransmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS.
PLoS pathogensThe influence of PRNP polymorphisms on human prion disease susceptibility: an update.
Acta neuropathologicaClinical update of Jakob-Creutzfeldt disease.
Current opinion in neurologyGenome-wide association study of behavioural and psychiatric features in human prion disease.
Translational psychiatryProteomics analyses for the global proteins in the brain tissues of different human prion diseases.
Molecular & cellular proteomics : MCPAssociações
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Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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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.
- Human Prion Disease: Pathogenesis, Diagnosis and Public Health.
- Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.
- Gerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.
- Clinical phenotype associated with A118V mutation of PRPN gene.
- Creutzfeldt-Jakob disease mimicking limbic encephalitis as a cause of rapid neurological deterioration.
- Unusual occurrence of temporo-spatial cluster of human prion disease in northern part of central Slovakia.
- A noninvasive test for human prion disease using hair roots and scalp.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:56970(Orphanet)
- MONDO:0018926(MONDO)
- GARD:18851(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q703961(Wikidata)
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
