Orrú C, Hughson A, Groveman B, et al. Factors that improve RT-QUIC detection of prion seeding activity. Viruses. 2016;8(5):140. doi:10.3390/v8050140
Orrú CD, Groveman BR, Raymond LD, et al. Correction: Bank vole Prion protein as an apparently universal substrate for RT-QUIC-Based detection and discrimination of prion strains. PLoS Pathogens. 2015;11(8):e1005117. doi:10.1371/journal.ppat.1005117
Thomas CM, Salamat MKF, De Wolf C, et al. Development of a sensitive real-time quaking-induced conversion (RT-QuIC) assay for application in prion-infected blood. PLoS ONE. 2023;18(11):e0293845. doi:10.1371/journal.pone.0293845
Schmitz M, Correia SS, Hermann P, et al. Detection of prion protein seeding activity in tear fluids. New England Journal of Medicine. 2023;388(19):1816-1817. doi:10.1056/nejmc2214647
Bregman N, Shiner T, Kavé G, et al. The natural history study of preclinical genetic Creutzfeldt-Jakob Disease (CJD): a prospective longitudinal study protocol. BMC Neurology. 2023;23(1). doi:10.1186/s12883-023-03193-8
Edgeworth JA, Farmer M, Sicilia A, et al. Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay. The Lancet. 2011;377(9764):487-493. doi:10.1016/s0140-6736(10)62308-2
Hwang S, Greenlee JJ, Nicholson EM. Real-Time Quaking-Induced Conversion detection of PRPSC in fecal samples from chronic wasting disease infected White-Tailed deer using Bank vole substrate. Frontiers in Veterinary Science. 2021;8. doi:10.3389/fvets.2021.643754
John TR, Schätzl HM, Gilch S. Early detection of chronic wasting disease prions in urine of pre-symptomatic deer by real-time quaking-induced conversion assay. Prion. 2013;7(3):253-258. doi:10.4161/pri.24430
Moda F, Gambetti P, Notari S, et al. Prions in the Urine of Patients with Variant Creutzfeldt–Jakob Disease. New England Journal of Medicine. 2014;371(6):530-539. doi:10.1056/nejmoa1404401
Luk C, Jones S, Thomas C, et al. Diagnosing sporadic Creutzfeldt-Jakob disease by the detection of abnormal prion protein in patient urine. JAMA Neurology. 2016;73(12):1454. doi:10.1001/jamaneurol.2016.3733
Norsworthy PJ, Thompson AGB, Mok TH, et al. A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis. Nature Communications. 2020;11(1). doi:10.1038/s41467-020-17655-x
Zhang W, Orrú CD, Foutz A, et al. Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases. Acta Neuropathologica. 2024;147(1). doi:10.1007/s00401-023-02661-2
Atarashi R. RT-QuIC as ultrasensitive method for prion detection. Cell and Tissue Research. 2022;392(1):295-300. doi:10.1007/s00441-021-03568-8
Bougard D, Brandel JP, Bélondrade M, et al. Detection of prions in the plasma of presymptomatic and symptomatic patients with variant Creutzfeldt-Jakob disease. Science Translational Medicine. 2016;8(370). doi:10.1126/scitranslmed.aag1257
Hermann P, Zerr I. Rapidly progressive dementias — aetiologies, diagnosis and management. Nature Reviews Neurology. 2022;18(6):363-376. doi:10.1038/s41582-022-00659-0
Bongianni M, Orrù C, Groveman BR, et al. Diagnosis of human Prion disease using Real-Time Quaking-Induced conversion testing of olfactory mucosa and cerebrospinal fluid samples. JAMA Neurology. 2016;74(2):155. doi:10.1001/jamaneurol.2016.4614
Freedman M. How to do lumbar puncture. Merck Manual Professional Edition. https://www.merckmanuals.com/professional/neurologic-disorders/how-to-do-lumbar-puncture/how-to-do-lumbar-puncture#Equipment_v53775337. Published May 9, 2024.
Ladogana A, Puopolo M, Croes EA, et al. Mortality from Creutzfeldt-Jakob disease and related disorders in Europe, Australia, and Canada. Neurology. 2005;64(9):1586-1591. doi:10.1212/01.wnl.0000160117.56690
Sanchez-Juan P, Green A, Ladogana A, et al. CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology. 2006;67(4):637-643. doi:10.1212/01.wnl.0000230159.67128.00
Hermann P, Appleby B, Brandel JP, et al. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. The Lancet Neurology. 2021;20(3):235-246. doi:10.1016/s1474-4422(20)30477-4
Atarashi R, Sano K, Satoh K, Nishida N. Real-time quaking-induced conversion. Prion. 2011;5(3):150-153. doi:10.4161/pri.5.3.16893
Hermann P, Zerr I. Unmet needs of biochemical biomarkers for human prion diseases. Prion. 2024;18(1):89-93. doi:10.1080/19336896.2024.2349017
Altuna M, Ruiz I, Zelaya MV, Mendioroz M. Role of biomarkers for the diagnosis of Prion Diseases: A Narrative review. Medicina. 2022;58(4):473. doi:10.3390/medicina58040473
Thompson AGB, Anastasiadis P, Druyeh R, et al. Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases. Molecular Psychiatry. 2021;26(10):5955-5966. doi:10.1038/s41380-021-01045-w
Baranová S, Moško T, Brůžová M, et al. Detection of prions in matching post-mortem skin and cerebrospinal fluid samples using second-generation real-time quaking-induced conversion assay. Scientific Reports. 2024;14(1). doi:10.1038/s41598-024-56789-6
Heath CA, Cooper SA, Murray K, et al. Validation of diagnostic criteria for variant Creutzfeldt–Jakob disease. Annals of Neurology. 2010;67(6):761-770. doi:10.1002/ana.21987
Zanusso G, Ferrari S, Cardone F, et al. Detection of pathologic prion protein in the olfactory epithelium in sporadic Creutzfeldt–Jakob disease. New England Journal of Medicine. 2003;348(8):711-719. doi:10.1056/nejmoa022043
Orrú CD, Bongianni M, Tonoli G, et al. A test for Creutzfeldt–Jakob disease using nasal brushings. New England Journal of Medicine. 2014;371(6):519-529. doi:10.1056/nejmoa1315200
Foote M, Zhou Y. 14-3-3 proteins in neurological disorders. PubMed. January 2012. https://pubmed.ncbi.nlm.nih.gov/22773956.
Budka H, Aguzzi A, Brown P, et al. Neuropathological diagnostic criteria for Creutzfeldt‐Jakob disease (CJD) and other human spongiform encephalopathies (Prion diseases). Brain Pathology. 1995;5(4):459-466. doi:10.1111/j.1750-3639.1995.tb00625.x
Hermann P, Laux M, Glatzel M, et al. Validation and utilization of amended diagnostic criteria in Creutzfeldt-Jakob disease surveillance. Neurology. 2018;91(4). doi:10.1212/wnl.0000000000005860
Connor A, Wang H, Appleby BS, Rhoads DD. Clinical laboratory tests used to aid in diagnosis of human prion disease. Journal of Clinical Microbiology. 2019;57(10). doi:10.1128/jcm.00769-19
Zerr I. Laboratory diagnosis of Creutzfeldt–Jakob Disease. New England Journal of Medicine. 2022;386(14):1345-1350. doi:10.1056/nejmra2119323
Rhoads DD, Wrona A, Foutz A, et al. Diagnosis of prion diseases by RT-QuIC results in improved surveillance. Neurology. 2020;95(8). doi:10.1212/wnl.0000000000010086
Concha-Marambio L, Pritzkow S, Moda F, et al. Detection of prions in blood from patients with variant Creutzfeldt-Jakob disease. Science Translational Medicine. 2016;8(370). doi:10.1126/scitranslmed.aaf6188
Cramm M, Schmitz M, Karch A, et al. Stability and reproducibility underscore utility of RT-QUIC for diagnosis of Creutzfeldt-Jakob disease. Molecular Neurobiology. 2015;53(3):1896-1904. doi:10.1007/s12035-015-9133-2
Green AJE. RT-QuIC: a new test for sporadic CJD. Practical Neurology. 2018;19(1):49-55. doi:10.1136/practneurol-2018-001935
Foutz A, Appleby BS, Hamlin C, et al. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Annals of Neurology. 2016;81(1):79-92. doi:10.1002/ana.24833
McGuire LI, Peden AH, Orrú CD, et al. Real time quaking‐induced conversion analysis of cerebrospinal fluid in sporadic Creutzfeldt–Jakob disease. Annals of Neurology. 2012;72(2):278-285. doi:10.1002/ana.23589
Sano K, Satoh K, Atarashi R, et al. Early detection of abnormal prion protein in genetic human prion diseases now possible using Real-Time QUIC assay. PLoS ONE. 2013;8(1):e54915. doi:10.1371/journal.pone.0054915
Cramm M, Schmitz M, Karch A, et al. Characteristic CSF Prion Seeding Efficiency in Humans with Prion Diseases. Molecular Neurobiology. 2014;51(1):396-405. doi:10.1007/s12035-014-8709-6
Orrú CD, Wilham JM, Raymond LD, et al. Prion Disease blood test using immunoprecipitation and improved Quaking-Induced conversion. mBio. 2011;2(3). doi:10.1128/mbio.00078-11
Atarashi R, Satoh K, Sano K, et al. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nature Medicine. 2011;17(2):175-178. doi:10.1038/nm.2294
Wilham JM, Orrú CD, Bessen RA, et al. Rapid End-Point Quantitation of Prion Seeding Activity with Sensitivity Comparable to Bioassays. PLoS Pathogens. 2010;6(12):e1001217. doi:10.1371/journal.ppat.1001217
Green A, Sanchez‐Juan P, Ladogana A, et al. CSF analysis in patients with sporadic CJD and other transmissible spongiform encephalopathies. European Journal of Neurology. 2006;14(2):121-124. doi:10.1111/j.1468-1331.2006.01630.x
Denkers ND, Henderson DM, Mathiason CK, Hoover EA. Enhanced prion detection in biological samples by magnetic particle extraction and real-time quaking-induced conversion. Journal of General Virology. 2016;97(8):2023-2029. doi:10.1099/jgv.0.000515
Atarashi R, Wilham JM, Christensen L, et al. Simplified ultrasensitive prion detection by recombinant PrP conversion with shaking. Nature Methods. 2008;5(3):211-212. doi:10.1038/nmeth0308-211
Trieschmann L, Santos AN, Kaschig K, et al. Ultra-sensitive detection of prion protein fibrils by flow cytometry in blood from cattle affected with bovine spongiform encephalopathy. BMC Biotechnology. 2005;5(1). doi:10.1186/1472-6750-5-26
Saborio GP, Permanne B, Soto C. Sensitive detection of pathological prion protein by cyclic amplification of protein misfolding. Nature. 2001;411(6839):810-813. doi:10.1038/35081095
Zanusso G, Monaco S, Pocchiari M, Caughey B. Advanced tests for early and accurate diagnosis of Creutzfeldt–Jakob disease. Nature Reviews Neurology. 2016;12(6):325-333. doi:10.1038/nrneurol.2016.65
McCutcheon S, Blanco ARA, Houston EF, et al. All Clinically-Relevant Blood Components Transmit Prion Disease following a Single Blood Transfusion: A Sheep Model of vCJD. PLoS ONE. 2011;6(8):e23169. doi:10.1371/journal.pone.0023169
Douet JY, Lacroux C, Aron N, et al. Distribution and quantitative estimates of variant Creutzfeldt-Jakob disease prions in tissues of clinical and asymptomatic patients. Emerging Infectious Diseases. 2017;23(6):946-956. doi:10.3201/eid2306.161734
Gill ON, Spencer Y, Richard-Loendt A, et al. Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey. BMJ. 2013;347(oct15 5):f5675. doi:10.1136/bmj.f5675