Doença príon humana esporádica rara caracterizada por comprometimento cognitivo rapidamente progressivo em combinação com sinais e sintomas neurológicos variáveis, incluindo mioclonia, problemas visuais ou cerebelares, características piramidais ou extrapiramidais ou mutismo acinético. A imagem cerebral pode mostrar alta intensidade de sinal nas regiões caudado, putâmen e/ou cortical, e um padrão típico de EEG que consiste em complexos generalizados de ondas agudas periódicas é observado em muitos casos. A doença é invariavelmente fatal em menos de dois anos. O exame neuropatológico revela deposição de proteína príon anormal no tecido cerebral, bem como alteração espongiforme e perda neuronal maciça e gliose.
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Doença príon humana esporádica rara caracterizada por comprometimento cognitivo rapidamente progressivo em combinação com sinais e sintomas neurológicos variáveis, incluindo mioclonia, problemas visuais ou cerebelares, características piramidais ou extrapiramidais ou mutismo acinético. A imagem cerebral pode mostrar alta intensidade de sinal nas regiões caudado, putâmen e/ou cortical, e um padrão típico de EEG que consiste em complexos generalizados de ondas agudas periódicas é observado em muitos casos. A doença é invariavelmente fatal em menos de dois anos. O exame neuropatológico revela deposição de proteína príon anormal no tecido cerebral, bem como alteração espongiforme e perda neuronal maciça e gliose.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 613
Tri-Band Rhythmicity on Quantitative EEG: A Clinically Applicable Marker for Sporadic Creutzfeldt-Jakob Disease.
IntroductionSporadic Creutzfeldt-Jakob Disease (sCJD) is a rapidly progressive prion disease that can be challenging to distinguish from other dementias, especially in early stages or when classical EEG findings, such as periodic sharp wave complexes (PSWCs), are absent. This study aimed to assess the utility of quantitative EEG (QEEG) features-derived from Food and Drug Administration-approved software-in differentiating sCJD from non-sCJD dementias.MethodsEEG data from 78 participants were retrospectively analyzed: 19 sCJD patients, 49 non-sCJD dementia patients, and 10 healthy controls. sCJD cases were sourced from three centers, while matched non-sCJD cases and controls were selected from a single-center EEG database. Sixty seconds of artifact-free EEG during wakefulness or drowsiness were selected per participant. QEEG parameters-amplitude-integrated EEG (aEEG) and rhythmicity spectrogram (RS)-were extracted using Persyst® software. Intergroup comparisons were conducted using the Kruskal-Wallis test with Holm-Sidák correction. Group-level rhythmicity patterns were also evaluated visually.ResultssCJD patients had significantly higher aEEG and RS values than non-sCJD patients across both hemispheres (aEEG: left p = .001, right p = .010; RS: left p = .001, right p = .003). A distinct "tri-band rhythmicity" pattern involving delta, theta, and low beta frequencies was uniquely observed in sCJD patients, including those without PSWCs on conventional EEG.ConclusionQEEG using clinically available software can reveal disease-specific electrophysiological features in sCJD. Tri-band rhythmicity may serve as a non-invasive adjunctive marker for early or atypical sCJD diagnosis, warranting further validation in prospective studies.
Sporadic Creutzfeldt-Jakob disease in Palestine with early ataxia and dysarthria: a case report.
Creutzfeldt–Jakob disease (CJD) is a rare and fatal neurodegenerative disorder caused by misfolded prion proteins. It progresses inexorably to death once clinical symptoms emerge. Early manifestations are often nonspecific and may mimic other neurological conditions, making diagnosis particularly challenging. We report the case of a 54-year-old Palestinian male who initially presented with dysarthria, vertical gaze nystagmus, dizziness, and gait ataxia while maintaining preserved cognition. Over the following month, he developed short-term memory loss, hallucinations, and disorientation. Extensive workup excluded infectious, toxicological, autoimmune, metabolic, and paraneoplastic causes. Cerebrospinal fluid (CSF) analysis revealed markedly elevated tau protein, a decreased Aβ42/40 ratio, and positive 14-3-3 protein. Although the initial Magnetic Resonance Imaging (MRI) was unremarkable, a follow-up scan demonstrated bilateral thalamic and basal ganglia abnormalities. Trials of plasmapheresis and corticosteroids were administered without clinical improvement. The patient's condition deteriorated rapidly, culminating in death within seven months of symptom onset. This case of CJD was considered the first to be documented in Palestine.
18F-DPA-714 PET/MRI reveals early and widespread neuroinflammation in sporadic Creutzfeldt-Jakob disease: a case report.
Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder caused by prion proteins, with microglial activation being a key immunopathological feature. This case report demonstrates the application of 18F-DPA-714 positron emission tomography (PET)/MRI, a second-generation translocator protein ligand, to visualise microglial activation in vivo in a patient with sporadic CJD (sCJD). A 57-year-old woman presented with progressive rapid cognitive decline and behavioural change. MRI revealed restricted diffusion within the patchy cortical ribbon of bilateral frontal, parietal, occipital lobes and right caput nuclei caudate. Lumbar puncture revealed positive 14-3-3 protein and robustly positive real-time quaking-induced conversion assay, fulfilling the diagnostic criteria for definite sCJD. 18F-DPA-714 PET/MRI showed extensive tracer uptake in bilateral cortical regions, caudate nuclei and the thalamus, indicating widespread microglial activation. The extent of abnormality on PET exceeded that seen on initial MRI, suggesting higher sensitivity for early pathological changes. This is the first reported case of sCJD evaluated with 18F-DPA-714 PET/MRI. The findings suggest that 18F-DPA-714 PET/MRI may provide complementary sensitivity beyond structural MRI, potentially improving early diagnostic confidence in sCJD.
Rapidly progressive sensorineural hearing loss due to sporadic Creutzfeldt-Jakob disease.
A patient developed several weeks of progressive bilateral sensorineural hearing loss, initially suspected to be an ischaemic stroke due to right parietal diffusion restriction on MRI. However, the persistence and progression of symptoms, including left upper extremity weakness, word deafness and cognitive decline, were inconsistent with a vascular event. Repeat imaging revealed expanding cortical ribboning without infarct evolution. Extensive workup ruled out stroke, autoimmune encephalitis, infection and seizure-related processes. Cerebrospinal fluid analysis demonstrated significantly elevated 14-3-3 and T-tau proteins, making sporadic Creutzfeldt-Jakob disease probable. This case illustrates how early prion disease can mimic stroke radiographically and clinically, underscoring the importance of reconsidering the diagnosis when neurological deficits progress rapidly and atypically. Alterations in attention, cognition, or consciousness are clinically characteristic of encephalopathy. This diffuse cerebral dysfunction can vary in severity due to numerous etiologies, including toxic, metabolic, infectious, and degenerative derangements. Acute encephalopathy may range from mild confusion and delirium to coma, typically presenting with a fluctuating course that involves altered mental status, confusion, and changes in motor activity. Symptoms often include lethargy, cognitive impairment, altered memory and information processing, and disturbed sleep-wake cycles. In more chronic, slowly progressive, or static encephalopathies, initial attentional retention may be followed by a loss of cognitive capacity. Encephalopathy is typically observed in older adults and is commonly seen in intensive care units and in postoperative individuals. Despite the new developments in intensive medical care, acute encephalopathy is still a significant cause of morbidity and mortality in hospitalized patients. In this regard, electroencephalography (EEG) enables rapid bedside electrophysiological monitoring, providing dynamic real-time information on neocortical brain activity and dysfunction. EEG is useful for evaluating patients with acute and chronic encephalopathies. The primary role of EEG in this setting is to rule out seizures as a cause of altered mental status. Various patterns can be observed in patients with encephalopathy; abnormal patterns, especially those with an acute-to-subacute onset, are sensitive for encephalopathy but not specific for diagnosing its causes. Most encephalopathies are associated with the slowing of dominant rhythms and background activity. This is most likely due to the involvement of both the cortical neurons and the subcortical white matter dysfunction. Overall, EEG is useful for assessing the extent of cerebral dysfunction in encephalopathy and for monitoring changes in association with clinical progression. A review of EEG emphasized that it is not pathognomonic of encephalopathy or encephalitis. However, when interpreted correctly and within the clinical context, some phenotypes may reflect specific pathophysiology, such as lateralized periodic discharges in herpes simplex virus-1 infection, generalized periodic discharges in sporadic Creutzfeldt-Jakob disease, and extreme delta brushes in anti-N-methyl-D-aspartate receptor autoimmune encephalitis. Specialist guidelines include EEG for disease assessment, monitoring, and prognostication in hepatic, cancer immunotherapy, viral, prion, autoimmune encephalitis, and hypoxic-ischemic encephalopathy. EEG also plays a crucial role in confirming or excluding nonconvulsive seizures or status epilepticus, especially among those who are critically ill, and in understanding recent concepts like epileptic encephalopathy and the ictal-interictal continuum.
The Phenotypic Spectrum of Sporadic Creutzfeldt-Jakob Disease Cortical Subtype.
The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt-Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. We evaluated clinical histories, biofluid markers, brain diffusion-weighted (DW)-magnetic resonance imaging (MRI), and electroencephalogram (EEG) findings in 56 patients. The histomolecular assessment included misfolded prion protein (PrP) typing by immunoblotting, histopathology, and PrP immunohistochemistry in several brain areas. Misfolded PrP typing showed a dominant 19 kDa unglycosylated PrP fragment (type 2) in all brains, focally associated with a 21 kDa (type 1) fragment in 53% of participants (MM/MV2C + 1). Immunohistochemistry revealed coarse/perivacuolar PrP deposits in the neocortices and a patchy/coarse pattern in the cerebellar molecular layer. The mean disease duration was 16.0 months. At onset and early stages, most patients manifested only progressive cognitive decline, consistent with the predominant distribution and relative severity of spongiform change in the cerebral cortex. Brain DW-MRI showed cortical hyperintensities in 94% of cases. Cerebrospinal fluid (CSF) real-time quaking-induced conversion (RT-QuIC) assay was positive in 70% of cases. Compared with pure MM/MV2C, the mixed MM/MV2C + 1 phenotype showed a shorter disease duration (14 vs 19 months), and a higher frequency of striatal DW-MRI hyperintensity (56% vs 19%), EEG periodic sharp-waves complexes (41% vs 6%), and CSF RT-QuIC positivity (86% vs 53%). The clinicopathologic phenotype of sCJDMM/MV2C diverges from that of typical sCJDMM/MV1. Moreover, the histomolecular heterogeneity within MM/MV2C influences clinical features and results of diagnostic investigations, challenging its identification in vivo. Nonetheless, results suggest that DW-MRI and CSF RT-QuIC allow an accurate clinical diagnosis of Creutzfeldt-Jakob disease in most patients. ANN NEUROL 2026;99:883-896.
Publicações recentes
When Thiamine Is Not the Answer: Sporadic Creutzfeldt-Jakob Disease Mimicking Wernicke's Encephalopathy.
Atypical Initial Manifestation of Sporadic Creutzfeldt-Jakob Disease as Progressive Aphasia and Palinopsia: A Case Report.
Late-Onset Depression Mimicking a Primary Psychiatric Disorder: Diagnostic Pitfalls in Sporadic Creutzfeldt-Jakob Disease.
Diagnosis of Sporadic Creutzfeldt-Jakob Disease in Both Kidney Recipients From the Same Donor: Was It Graft Transmission?
Ferroptosis-related mechanisms in prion diseases provide insights into neurodegeneration and reveal therapeutic implications.
📚 EuropePMC726 artigos no totalmostrando 194
Sporadic Creutzfeldt-Jakob Disease With Spinal Cord Lesions: A Case Report.
CureusPrognostic value of CSF total Tau Protein in patients with familial and sporadic Creutzfeldt-Jakob Disease.
Dementia and geriatric cognitive disordersTri-Band Rhythmicity on Quantitative EEG: A Clinically Applicable Marker for Sporadic Creutzfeldt-Jakob Disease.
Clinical EEG and neuroscienceDistinct neuronal alterations distinguish two subtypes of sporadic Creutzfeldt-Jakob disease with shared dysfunctional pathways.
The Journal of clinical investigationAlterations in cerebrospinal fluid levels of myelin- and oligodendrocyte-related proteins in sporadic Creutzfeldt-Jakob disease.
Acta neuropathologica communicationsSporadic Creutzfeldt-Jakob disease in Palestine with early ataxia and dysarthria: a case report.
BMC neurology18F-DPA-714 PET/MRI reveals early and widespread neuroinflammation in sporadic Creutzfeldt-Jakob disease: a case report.
BMJ neurology open[MRI as a key for early diagnosis of Creutzfeldt-Jakob disease].
Ugeskrift for laegerRapidly progressive sensorineural hearing loss due to sporadic Creutzfeldt-Jakob disease.
BMJ case reportsFirst Suspected Case of Sporadic Creutzfeldt-Jakob Disease in Syria.
International medical case reports journalThe Phenotypic Spectrum of Sporadic Creutzfeldt-Jakob Disease Cortical Subtype.
Annals of neurologyProdromal Sleep Disturbances and Polysomnographic Findings in Patients With Creutzfeldt-Jakob Disease.
Brain and behaviorDistinct cerebrospinal fluid proteomic signatures define clinicopathological subtypes of sporadic Creutzfeldt-Jakob disease and predict patient survival.
Acta neuropathologica communicationsRapidly progressive dementia in a middle-aged woman: A case of probable sporadic Creutzfeldt-Jakob disease.
Medicine internationalCombined neocortical protein and morphological profiling of reactive microglia across Alzheimer's and Creutzfeldt-Jakob disease.
Acta neuropathologica communicationsPRES-like MRI findings in sporadic Creutzfeldt-Jakob disease: a case report.
Acta neurologica BelgicaLurking in Ambush: A Case Report of Probable Creutzfeldt-Jakob Disease From Rural Kerala, India.
CureusNeuropsychiatric symptoms are part of the diagnostic criteria for sporadic Creutzfeldt-Jakob disease.
Brain : a journal of neurologyFrom early symptoms to EEG silence: tracking the neurodegenerative course of sporadic Creutzfeldt-Jakob disease.
Frontiers in human neuroscienceProgressive multifocal diffusion-weighted imaging hyperintensities in sporadic Creutzfeldt-Jakob disease with positive cerebrospinal fluid real-time quaking-induced conversion: a case report.
Journal of medical case reportsAn Atypical Presentation of Sporadic Creutzfeldt-Jakob Disease in the Setting of Chronic Alcohol Use Disorder.
Case reports in neurological medicineIncidence of Sporadic Creutzfeldt-Jakob Disease in the Emergency Department.
American journal of Alzheimer's disease and other dementiasGAPDH citrullination as a molecular signature of neurodegeneration, assessed in prion diseases.
Journal of Alzheimer's disease : JADAn unusual association between HIV and Creutzfeldt-Jakob disease in a patient from northeastern Brazil.
The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious DiseasesInfecting human brain organoids with FFI or sCJD preserves prion traits regardless of host genotype.
NPJ dementiaRapidly Progressive Dementia After Platelet-Rich Plasma Therapy: A Case of Sporadic Creutzfeldt-Jakob Disease in the Context of Chronic Ehrlichiosis.
CureusPrion Disease Diagnostic Biomarker Utility in Pre-symptomatic Disease.
Sub-cellular biochemistryThe gunslinger sign in sporadic Creutzfeldt-Jakob disease.
Journal of the neurological sciencesFocal electroencephalography abnormality in the early stage of sporadic Creutzfeldt-Jakob disease corresponding to neuroradiological findings: A magnetoencephalography experience.
Clinical neurology and neurosurgeryMediators linking gut microbiota and sporadic Creutzfeldt-Jakob disease: a Mendelian randomization study.
AMB ExpressVariably protease-sensitive prionopathy: mass spectrometry analysis of the pathogenic prion protein provides a new perspective.
Acta neuropathologica communicationsLife Expectancy for Patients With Sporadic Creutzfeldt-Jakob Disease.
JAMA neurologyHuman PrP E219K: a new and promising substrate for robust RT-QuIC amplification of human prions with potential for strain discrimination.
Microbiology spectrumTreatment with efavirenz extends survival in a Creutzfeldt-Jakob disease model by regulating brain cholesterol metabolism.
JCI insightSporadic Creutzfeldt-Jakob Disease Complicated by Intracerebral Hemorrhaging in the Early Stage of Onset.
Internal medicine (Tokyo, Japan)Clinical Manifestations of Sporadic Creutzfeldt-Jakob Disease in a Public Neurological Hospital in Thailand.
Alzheimer disease and associated disordersAbnormal Expression of Proteolytic Stress-Related Proteins and Protective Effect of Fibrinolytic Enzymes in Prion Diseases.
Transboundary and emerging diseasesTransmission and Characterization of Creutzfeldt-Jakob Disease and Chronic Wasting Disease in the North American Deer Mouse.
VirusesAlien Limb Phenomenon and Ideomotor Apraxia as Early Indicators of Sporadic Creutzfeldt-Jakob Disease.
Movement disorders clinical practiceNeuropsychiatric symptoms in sporadic Creutzfeldt-Jakob disease.
Brain : a journal of neurologySpecific early electroencephalogram for the diagnosis of sporadic Creutzfeldt-Jakob disease.
PrionChallenges and Revisions in Diagnostic Criteria: Advancing Early Detection of Prion Diseases.
International journal of molecular sciencesRapidly progressive dementia: probable sporadic Creutzfeldt-Jakob disease in a Yoruba Nigerian woman with rapidly progressive dementia: a case report.
Journal of medical case reportsCorrigendum: Multidimensional features of sporadic Creutzfeldt-Jakob disease in the elderly: a case report and systematic review.
Frontiers in aging neuroscienceIsolated CSF RT-QuIC positivity associates with a less aggressive disease course and decreased levels of neuronal/glial damage biomarkers in patients with sporadic Creutzfeldt-Jakob disease.
Journal of neurologyDiagnostic Challenges in Sporadic Creutzfeldt-Jakob Disease: A Case Study of Typical Clinical Presentation with Negative Findings.
The American journal of case reports"By the Time We Knew …": Poetic Analysis of End-of-Life Caregiving Experiences for Rapidly Progressive and Slower-Duration Dementia Syndromes.
Journal of the American Geriatrics SocietySporadic Creutzfeldt-Jakob Disease: A Case Report and Literature Review.
Cureus[Diagnostic challenge: Sporadic Creutzfeldt-Jakob disease].
SemergenMultiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes.
Brain : a journal of neurologyMood Alterations in the Prodromal Phase of Sporadic Creutzfeldt-Jakob Disease.
JAMA neurologyDiagnostic challenge of sporadic Creutzfeldt-Jakob disease revealed by a psychiatric presentation.
Psychogeriatrics : the official journal of the Japanese Psychogeriatric SocietyInterpretable deep learning survival predictions in sporadic Creutzfeldt-Jakob disease.
Journal of neurologyThe comparative analysis between sporadic and genetic Creutzfeldt-Jakob disease in China.
Acta neurologica BelgicaPathological spectrum of sporadic Creutzfeldt-Jakob disease.
PathologyLate Diagnostic Clues in Rapidly Progressing Probable Heidenhain Variant of Creutzfeldt-Jakob Disease.
Case reports in neurological medicineA Rapid Cognitive and Motor Decline: A Case of Misdiagnosed Sporadic Creutzfeldt-Jakob Disease.
CureusSporadic Creutzfeldt-Jakob Disease: A Rare Case of Rapid Progressive Cognitive Decline with Special Reference to Magnetic Resonance Spectroscopy.
The Journal of the Association of Physicians of IndiaA Retrospective Cohort Study of a Newly Proposed Criteria for Sporadic Creutzfeldt-Jakob Disease.
Diagnostics (Basel, Switzerland)Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles.
Journal of visualized experiments : JoVERefractory status epilepticus seen in the early phase of sporadic Creutzfeldt-Jakob disease.
BMJ case reportsSporadic Creutzfeldt Jakob disease: Case series in Peru.
Colombia medica (Cali, Colombia)Multisite Skin Biopsies vs Cerebrospinal Fluid for Prion Seeding Activity in the Diagnosis of Prion Diseases.
JAMA neurologyReactive microglia partially envelop viable neurons in prion diseases.
The Journal of clinical investigationPMCA to demonstrate the efficacy of prion inactivation methods on reusable medical devices: a relevant alternative to animal bioassays.
The Journal of hospital infectionA Systematic Review of Sporadic Creutzfeldt-Jakob Disease: Pathogenesis, Diagnosis, and Therapeutic Attempts.
Neurology internationalPrion diseases disrupt glutamate/glutamine metabolism in skeletal muscle.
PLoS pathogensDisulfidoptosis as a Novel Mechanism of Neuronal Death: Insights from Creutzfeldt-Jakob Disease.
World neurosurgeryAtypical Presentation of Probable Sporadic Creutzfeldt-Jakob Disease: A Patient Without Mental Deterioration.
CureusSporadic Creutzfeldt-Jakob Disease: Finding the Needle in the Haystack.
CureusAssessing the newly proposed MRI criteria for diagnosing sporadic Creutzfeldt-Jakob disease.
NeuroradiologySyntaxin-6 delays prion protein fibril formation and prolongs the presence of toxic aggregation intermediates.
eLifeGenome wide association study of clinical duration and age at onset of sporadic CJD.
PloS oneAssessment of the Zoonotic Potential of Atypical Scrapie Prions in Humanized Mice Reveals Rare Phenotypic Convergence but Not Identity With Sporadic Creutzfeldt-Jakob Disease Prions.
The Journal of infectious diseasesExploring the Relationship Between Sporadic Creutzfeldt-Jakob Disease and Gut Microbiota Through a Mendelian Randomization Study.
Molecular neurobiologyDysarthria as a Presenting Symptom With Rapidly Progressive Imaging Features in Sporadic Creutzfeldt-Jakob Disease: A Case Report.
CureusA rare case of Sporadic Creutzfeldt-Jakob disease at a remote mountain hospital in the Indian Himalayan Region.
Autopsy & case reportsGenetic insights into drug targets for sporadic Creutzfeldt-Jakob disease: Integrative multi-omics analysis.
Neurobiology of diseaseDiagnostic and Prognostic Value of Plasma GFAP in Sporadic Creutzfeldt-Jakob Disease in the Clinical Setting of Rapidly Progressive Dementia.
International journal of molecular sciencesSporadic Creutzfeldt-Jakob disease in adults over 80 years: a 10-year review of United Kingdom surveillance.
Age and ageingMultidimensional features of sporadic Creutzfeldt-Jakob disease in the elderly: a case report and systematic review.
Frontiers in aging neuroscienceSensitive detection of pathological seeds of α-synuclein, tau and prion protein on solid surfaces.
PLoS pathogensNovel method for classification of prion diseases by detecting PrPres signal patterns from formalin-fixed paraffin-embedded samples.
PrionCharacterisation of RT-QuIC negative cases from the UK National CJD Research and Surveillance programme.
Journal of neurologyIgLON5 autoimmunity in a patient with Creutzfeldt-Jakob disease: case report and review of literature.
Frontiers in neurologySlow to Respond: A Rapidly Progressive Case of Sporadic Creutzfeldt-Jakob Disease.
CureusDifferent reactive profiles of calmodulin in the CSF samples of Chinese patients of four types of genetic prion diseases.
Frontiers in molecular neuroscienceDevelopment of statistical auto-segmentation method for diffusion restriction gray matter lesions in patients with newly diagnosed sporadic Creutzfeldt-Jakob disease.
Scientific reportsProbable Sporadic Creutzfeldt-Jakob Disease Presenting as Refractory Status Epilepticus in a Poststroke Epilepsy Patient: A Case Report.
NMC case report journalLarge-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases.
Acta neuropathologicaSporadic Creutzfeldt-Jakob disease: Brain MRI lesion features from 2 cases reports.
Radiology case reportsA Study of Clinical Profile, Radiological and Electroencephalographic Characteristics of Sporadic Creutzfeldt-Jakob Disease From a Tertiary Care Hospital.
CureusPing-Pong Gaze in Sporadic Creutzfeldt-Jakob Disease.
Movement disorders clinical practiceProspective 25-year surveillance of prion diseases in France, 1992 to 2016: a slow waning of epidemics and an increase in observed sporadic forms.
Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin[Review of a series of cases of Creutzfeldt-Jakob disease in a tertiary care hospital].
Revista de neurologiaEffect of SARS-CoV-2 Incidence and Immunisation Rates on Sporadic Creutzfeldt-Jakob Disease Incidence.
NeuroepidemiologyElectroencephalography in encephalopathy and encephalitis.
Practical neurologyNeural cell engraftment therapy for sporadic Creutzfeldt-Jakob disease restores neuroelectrophysiological parameters in a cerebral organoid model.
Stem cell research & therapyCSF 14-3-3β is associated with progressive cognitive decline in Alzheimer's disease.
Brain communicationsAutoimmune Antibodies Positivity in Probable Sporadic Creutzfeldt-Jakob Disease: A Mini-Review of Literature.
Annals of Indian Academy of NeurologyEfficient transmission of human prion diseases to a glycan-free prion protein-expressing host.
Brain : a journal of neurologyCharacterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6.
Neurobiology of diseaseValidation of the Medical Research Council prion disease rating scale in France.
Brain communications[Sporadic Creutzfeldt-Jakob Disease With Slow Progression:Report of One Case].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeRapid progression of probable Creutzfeldt-Jakob disease with concomitant COVID-19 infection.
BMJ case reportsSporadic Creutzfeldt-Jakob Disease With COVID-19 Infection: A Case Report.
CureusNon-convulsive status epilepticus versus periodic EEG pattern in sporadic Creutzfeldt-Jakob disease: two sides of the same coin?
The International journal of neuroscienceElevated 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 sciencesDetection of prions in the urine of patients affected by sporadic Creutzfeldt-Jakob disease.
Annals of clinical and translational neurologyMetabolic Brain Changes Can Predict the Underlying Pathology in Neurodegenerative Brain Disorders: A Case Report of Sporadic Creutzfeldt-Jakob Disease with Concomitant Parkinson's Disease.
International journal of molecular sciencesAn Atypical Presentation of Creutzfeldt-Jakob Disease as a Stroke Mimic: Experience From an Irish Tertiary Center.
CureusUnderstanding the key features of the spontaneous formation of bona fide prions through a novel methodology that enables their swift and consistent generation.
Acta neuropathologica communicationsNovel histotypes of sporadic Creutzfeldt-Jakob disease linked to 129MV genotype.
Acta neuropathologica communicationsGenetic analysis of potential biomarkers and therapeutic targets in neuroinflammation from sporadic Creutzfeldt-Jakob disease.
Scientific reportsGut microbiota and metabolome in sporadic Creutzfeldt-Jakob disease.
Journal of neurologySporadic Creutzfeldt-Jakob Disease Initially Presenting With Posterior Reversible Encephalopathy Syndrome: A Case Report.
The neurologistHigh diagnostic performance of plasma and cerebrospinal fluid beta-synuclein for sporadic Creutzfeldt-Jakob disease.
Annals of clinical and translational neurologyMisdiagnosis of rarest subtype of sporadic Creutzfeldt Jakob Disease: a case report.
BMC neurologyToward an early clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease.
Annals of clinical and translational neurologyAn autopsy case of variably protease-sensitive prionopathy with Met/Met homogeneity at codon 129.
Neuropathology : official journal of the Japanese Society of NeuropathologyCreutzfeldt-Jakob disease in a post-COVID-19 patient: did SARS-CoV-2 accelerate the neurodegeneration?
The Egyptian journal of neurology, psychiatry and neurosurgeryThe role of environmental factors on sporadic Creutzfeldt-Jakob disease mortality: evidence from an age-period-cohort analysis.
European journal of epidemiologyReal-time quaking-induced conversion assay using a small-scale substrate production workflow for the diagnosis of Creutzfeldt-Jakob disease.
Journal of neurochemistryA novel subtype of sporadic Creutzfeldt-Jakob disease with PRNP codon 129MM genotype and PrP plaques.
Acta neuropathologicaSpectrum and Pattern of Movement Disorders in Patients with Sporadic Creutzfeldt-Jakob Disease.
Tremor and other hyperkinetic movements (New York, N.Y.)Improved Real-Time Quaking Induced Conversion for Early Diagnostics of Creutzfeldt-Jakob Disease in Denmark.
International journal of molecular sciencesIs There Horizontal Transmission of Creutzfeldt-Jakob Disease?
NeuroepidemiologySeed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.
Brain : a journal of neurologyCorrigendum: PMCA-based detection of prions in the olfactory mucosa of patients with sporadic Creutzfeldt-Jakob disease.
Frontiers in aging neurosciencePreventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.
HeliyonVacuoles related to tissue neuron-astrocyte ratio and infiltration of macrophages/monocytes contribute to hyperintense brain signals on diffusion-weighted magnetic resonance imaging in sporadic Creutzfeldt-Jakob disease.
Journal of the neurological sciencesHeidenhain Variant of Sporadic Creutzfeldt-Jakob Disease with a Variety of Visual Symptoms: A Case Report with Autopsy Study.
The American journal of case reportsDefining the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease MV2K: the kuru plaque type.
Brain : a journal of neurologyA point mutation in GPI-attachment signal peptide accelerates the development of prion disease.
Acta neuropathologicaDiagnostic performance of CSF biomarkers in a well-characterized Australian cohort of sporadic Creutzfeldt-Jakob disease.
Frontiers in neurologyA Case of sporadic Creutzfeldt-Jakob disease.
Revista da Sociedade Brasileira de Medicina TropicalSporadic Creutzfeldt-Jakob disease infected human cerebral organoids retain the original human brain subtype features following transmission to humanized transgenic mice.
Acta neuropathologica communicationsA discriminative event-based model for subtype diagnosis of sporadic Creutzfeldt-Jakob disease using brain MRI.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationPRNP expression predicts imaging findings in sporadic Creutzfeldt-Jakob disease.
Annals of clinical and translational neurologySteroid-responsive encephalopathy in autoimmune thyroiditis (SREAT) as a differential diagnosis of Creutzfeldt-Jakob disease.
Neurologia i neurochirurgia polskaHigh-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.
Neurology. GeneticsSporadic Creutzfeldt-Jakob disease in Northern Tasmania.
The journal of the Royal College of Physicians of EdinburghApplication of real-time quaking-induced conversion in Creutzfeldt-Jakob disease surveillance.
Journal of neurologyDiagnostic approach in a patient with Creutzfeldt-Jakob disease.
Dementia & neuropsychologiaClinical profiles and ethnic heterogeneity of sporadic fatal insomnia.
European journal of neurologySporadic Creutzfeldt-Jakob disease is associated with reorganization of metabolic connectivity in a pathological brain network.
European journal of neurologyGenomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease.
Acta neuropathologica communicationsEvaluation of the impact of CSF prion RT-QuIC and amended criteria on the clinical diagnosis of Creutzfeldt-Jakob disease: a 10-year study in Italy.
Journal of neurology, neurosurgery, and psychiatryCaregiver Experiences Navigating the Diagnostic Journey in a Rapidly Progressing Dementia.
Journal of geriatric psychiatry and neurologySporadic Creutzfeldt-Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance.
Journal of neurologySilence of resident microglia in GPI anchorless prion disease and activation of microglia in Gerstmann-Sträussler-Scheinker disease and sporadic Creutzfeldt-Jakob disease.
Journal of neuropathology and experimental neurologyPropagation of Diffusion-Weighted MRI Abnormalities in the Preclinical Stage of Sporadic Creutzfeldt-Jakob Disease.
NeurologyPresence of anti-IgLON5 antibody in a case of sporadic Creutzfeldt-Jakob disease with sleep disturbance as a prominent symptom.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologySporadic Creutzfeldt-Jakob Disease With Status Epilepticus: Molecular Mechanisms and a Scoping Review of the Literature.
CureusChronological Changes in the Expression Pattern of Hippocampal Prion Proteins During Disease Progression in Sporadic Creutzfeldt-Jakob Disease MM1 Subtype.
Journal of neuropathology and experimental neurologySporadic 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 communicationsCreutzfeldt-Jakob disease: A case report and differential diagnoses.
Clinical case reportsCreutzfeldt-Jakob disease presenting with bilateral hearing loss: A case report.
World journal of clinical casesAnalysis of Clinical Features, Diagnostic Tests, and Biomarkers in Patients With Suspected Creutzfeldt-Jakob Disease, 2014-2021.
JAMA network openPrions induce an early Arc response and a subsequent reduction in mGluR5 in the hippocampus.
Neurobiology of diseaseMinimal change prion retinopathy: Morphometric comparison of retinal and brain prion deposits in Creutzfeldt-Jakob disease.
Experimental eye research18F-FP-CIT PET/CT in a case of probable sporadic Creutzfeldt-Jakob disease with parkinsonism as initial symptom.
PrionValidation of Plasma and CSF Neurofilament Light Chain as an Early Marker for Sporadic Creutzfeldt-Jakob Disease.
Molecular neurobiologyA Rare Case of Creutzfeldt-Jakob Disease With Alcohol Use Disorder and Review of Literature.
CureusDefault Mode Network quantitative diffusion and resting-state functional magnetic resonance imaging correlates in sporadic Creutzfeldt-Jakob disease.
Human brain mappingEEG - Imaging Evolution of the MV2 Subtype of Sporadic Creutzfeldt-Jakob Disease During the two-Year Course of the Disease.
Clinical EEG and neuroscienceConcordance of cerebrospinal fluid real-time quaking-induced conversion across the European Creutzfeldt-Jakob Disease Surveillance Network.
European journal of neurologyComprehensive clinical, radiological, pathological and biochemical analysis required to differentiate VV1 sporadic Creutzfeldt-Jakob disease from suspected variant CJD.
BMJ neurology openMore Than Meets the Eye: "In Vivo" Diagnosis of Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society[A case of Creutzfeldt-Jakob disease presenting with nonconvulsive status epilepticus in the early stages].
Rinsho shinkeigaku = Clinical neurologySpecific electroencephalogram features in the very early phases of sporadic Creutzfeldt-Jakob disease.
Journal of the neurological sciencesRole of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review.
Medicina (Kaunas, Lithuania)Rapidly Progressive Probable Sporadic Creutzfeldt-Jakob Disease.
CureusCreutzfeldt-Jakob disease with dizziness initially presenting to the otolaryngology department.
Auris, nasus, larynxAn autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease presenting with characteristic clinical, radiological, and neuropathological findings.
Neuropathology : official journal of the Japanese Society of NeuropathologyDual-Phase 18 F-FP-CIT PET in 2 Different Clinical Phenotypes of Sporadic Creutzfeldt-Jakob Disease.
Clinical nuclear medicineSerpin Signatures in Prion and Alzheimer's Diseases.
Molecular neurobiologyPMCA-Based Detection of Prions in the Olfactory Mucosa of Patients With Sporadic Creutzfeldt-Jakob Disease.
Frontiers in aging neuroscienceMethionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases.
Journal of neurology, neurosurgery, and psychiatryAssessing initial MRI reports for suspected CJD patients.
Journal of neurologyDiagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Brain : a journal of neurologyDeveloping neuropalliative care for sporadic Creutzfeldt-Jakob Disease.
PrionProdynorphin and Proenkephalin in Cerebrospinal Fluid of Sporadic Creutzfeldt-Jakob Disease.
International journal of molecular sciencesTotal and Phosphorylated Cerebrospinal Fluid Tau in the Differential Diagnosis of Sporadic Creutzfeldt-Jakob Disease and Rapidly Progressive Alzheimer's Disease.
VirusesSpecifically Regional Cerebral Hypoperfusion in a Case of Highly Suspected Sporadic Creutzfeldt-Jakob Disease on 99mTc-ECD SPECT/CT with Easy Z-Score Imaging System Analysis.
Diagnostics (Basel, Switzerland)Significance of Cortical Ribboning as a Biomarker in the Prodromal Phase of Sporadic Creutzfeldt-Jakob Disease.
Internal medicine (Tokyo, Japan)Sporadic Fatal Insomnia Presenting with Initial Symptoms of Parkinsonism and Abnormal Dopamine Transporter Imaging.
Movement disorders clinical practiceFirst familial cases of P102L Gerstmann-Sträussler-Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyValidation of Revised International Creutzfeldt-Jakob Disease Surveillance Network Diagnostic Criteria for Sporadic Creutzfeldt-Jakob Disease.
JAMA network openDiagnostic accuracy of cerebrospinal fluid biomarkers for the differential diagnosis of sporadic Creutzfeldt-Jakob disease: a (network) meta-analysis.
European journal of neurologyDevelopment of novel clinical examination scales for the measurement of disease severity in Creutzfeldt-Jakob disease.
Journal of neurology, neurosurgery, and psychiatry18FDG PET-CT in sporadic Creutzfeldt-Jakob disease, correlated with MRI and histology.
World journal of nuclear medicineAssociações
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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.
- Tri-Band Rhythmicity on Quantitative EEG: A Clinically Applicable Marker for Sporadic Creutzfeldt-Jakob Disease.
- Sporadic Creutzfeldt-Jakob disease in Palestine with early ataxia and dysarthria: a case report.
- 18F-DPA-714 PET/MRI reveals early and widespread neuroinflammation in sporadic Creutzfeldt-Jakob disease: a case report.
- Rapidly progressive sensorineural hearing loss due to sporadic Creutzfeldt-Jakob disease.
- The Phenotypic Spectrum of Sporadic Creutzfeldt-Jakob Disease Cortical Subtype.
- When Thiamine Is Not the Answer: Sporadic Creutzfeldt-Jakob Disease Mimicking Wernicke's Encephalopathy.
- Atypical Initial Manifestation of Sporadic Creutzfeldt-Jakob Disease as Progressive Aphasia and Palinopsia: A Case Report.
- Late-Onset Depression Mimicking a Primary Psychiatric Disorder: Diagnostic Pitfalls in Sporadic Creutzfeldt-Jakob Disease.
- Diagnosis of Sporadic Creutzfeldt-Jakob Disease in Both Kidney Recipients From the Same Donor: Was It Graft Transmission?
- Ferroptosis-related mechanisms in prion diseases provide insights into neurodegeneration and reveal therapeutic implications.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:204(Orphanet)
- MONDO:0016079(MONDO)
- GARD:6956(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55345939(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
