ArticleThe New England journal of medicine2014
A test for Creutzfeldt-Jakob disease using nasal brushings.
Article in The New England journal of medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 199 papers, 3 of them syntheses that pooled it.
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Who cites it
199 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Systematic review of literature regarding the isolation of mesenchymal adult stem cells from the olfactory epithelium.Frontiers in cellular neuroscience · 2026Pooled it
- A meta-analysis on RT-QuIC for the diagnosis of sporadic CJD.Acta neurologica Belgica · 2021Pooled it
- A novel diagnostic approach to patients with myoclonus.Nature reviews. Neurology · 2015Pooled it
- Ring trial of 2nd generation RT-QuIC diagnostic tests for sporadic CJD.Annals of clinical and translational neurology · 2020Trial
- From a prion seed to a tree of discoveries: Byron Caughey's RT-QuIC legacy in protein misfolding research.Acta neuropathologica · 2026Review
- Distinctive properties of the prion protein in the brain and retina in the amyloidosis associated with the PRNP F198S mutation.Acta neuropathologica · 2026Article
- Distinctive properties of the prion protein in the brain and retina in the amyloidosis associated with the PRNP F198S Mutation.Research square · 2026Article
- Cellular prion protein and its derived peptides: multifaceted roles in neurodegenerative diseases and potential as biomarkers.Cell & bioscience · 2026Review
- A Real Time Quaking Induced Conversion (RT-QuIC) Assay for Detection of Misfolded Insulin Protein.bioRxiv : the preprint server for biology · 2026Article
- Comparison of acetone and sodium phosphotungstic acid precipitation for sample enrichment prior to RT-QuIC for the detection of prion disease.BMC research notes · 2026Article
- Advancing prion diagnostics: full-length human E200K RT-QuIC substrate facilitates prion detection in tear fluid and improves sensitivity in cerebrospinal fluid.Acta neuropathologica communications · 2026Article
- Alpha-synuclein seeding activity in postmortem tissues from patients with diffuse and isolated Lewy bodies.Acta neuropathologica communications · 2026Article
- Recent advancements in QuIC-based diagnostic assays for sporadic and inherited prion diseases: focusing on the emerging role of ES-QuIC.Frontiers in neuroscience · 2026Review
- Prions and protein aggregates as pathogens, self-propagating structures, biomarkers, and therapeutic targets.Microbiology and molecular biology reviews : MMBR · 2025Review
- A noninvasive test for human prion disease using hair roots and scalp.Scientific reports · 2025Article
- Real-Time Quaking-Induced Conversion Assay Applied to the Italian Chronic Wasting Disease Monitoring Plan: Comparison of Classical and Innovative Diagnostic Methods.Pathogens (Basel, Switzerland) · 2025Article
- Novel in situ seeding immunodetection assay uncovers neuronal-driven alpha-synuclein seeding in Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Human PrP E219K: a new and promising substrate for robust RT-QuIC amplification of human prions with potential for strain discrimination.Microbiology spectrum · 2025Article
- Diagnostic Challenges in Creutzfeldt-Jakob Disease: A Case Report of an Atypical Presentation.Cureus · 2025Article
- Preanalytical Considerations of Handling Suspected Creutzfeldt-Jakob Disease Specimens Within the Clinical Pathology Laboratories: A Survey-Based Approach.Journal of clinical medicine · 2025Article
139 more citing papers are in PubMed but not listed here.
Corrections and comments
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- Erratum issued
Authors and funding
11 authors.
Funding
Abstract
backgroundDefinite diagnosis of sporadic Creutzfeldt-Jakob disease in living patients remains a challenge. A test that detects the specific marker for Creutzfeldt-Jakob disease, the prion protein (PrP(CJD)), by means of real-time quaking-induced conversion (RT-QuIC) testing of cerebrospinal fluid has a sensitivity of 80 to 90% for the diagnosis of sporadic Creutzfeldt-Jakob disease. We have assessed the accuracy of RT-QuIC analysis of nasal brushings from olfactory epithelium in diagnosing sporadic Creutzfeldt-Jakob disease in living patients.
methodsWe collected olfactory epithelium brushings and cerebrospinal fluid samples from patients with and patients without sporadic Creutzfeldt-Jakob disease and tested them using RT-QuIC, an ultrasensitive, multiwell plate-based fluorescence assay involving PrP(CJD)-seeded polymerization of recombinant PrP into amyloid fibrils.
resultsThe RT-QuIC assays seeded with nasal brushings were positive in 30 of 31 patients with Creutzfeldt-Jakob disease (15 of 15 with definite sporadic Creutzfeldt-Jakob disease, 13 of 14 with probable sporadic Creutzfeldt-Jakob disease, and 2 of 2 with inherited Creutzfeldt-Jakob disease) but were negative in 43 of 43 patients without Creutzfeldt-Jakob disease, indicating a sensitivity of 97% (95% confidence interval [CI], 82 to 100) and specificity of 100% (95% CI, 90 to 100) for the detection of Creutzfeldt-Jakob disease. By comparison, testing of cerebrospinal fluid samples from the same group of patients had a sensitivity of 77% (95% CI, 57 to 89) and a specificity of 100% (95% CI, 90 to 100). Nasal brushings elicited stronger and faster RT-QuIC responses than cerebrospinal fluid (P<0.001 for the between-group comparison of strength of response). Individual brushings contained approximately 10(5) to 10(7) prion seeds, at concentrations several logs10 greater than in cerebrospinal fluid.
conclusionsIn this preliminary study, RT-QuIC testing of olfactory epithelium samples obtained from nasal brushings was accurate in diagnosing Creutzfeldt-Jakob disease and indicated substantial prion seeding activity lining the nasal vault. (Funded by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases and others.).
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