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Review

The advances in the early and accurate diagnosis of Creutzfeldt–Jakob disease and other prion diseases: where are we today?

, & ORCID Icon
Pages 803-817 | Received 16 May 2023, Accepted 07 Aug 2023, Published online: 15 Aug 2023

References

  • Uttley L, Carroll C, Wong R, et al. Creutzfeldt-Jakob disease (CJD) is a fatal disease presenting with rapidly progressive dementia, and most patients die within a year of clinical onset. Lancet Infect Dis. 2020;20:e2–e10. doi: 10.1016/S1473-3099(19)30615-2
  • Prusiner SB. Prions. Proc Natl Acad Sci U S A. 1998;95(23):13363–13383. doi: 10.1073/pnas.95.23.13363
  • Prusiner SB. Novel proteinaceous infectious particles cause scrapie. Science. 1982;216(4542):136–144. doi: 10.1126/science.6801762
  • Hermann P, Appleby B, Brandel J-P, et al. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurol. 2021;20:235–246. doi: 10.1016/S1474-4422(20)30477-4
  • 30th Annual Report 2021. Creutzfeldt-Jakob disease surveillance in the UK. Edinburgh: National CJD Research and Surveillance Unit, 1998. [cited 2023 Aug 5]; Available from: https://www.cjd.ed.ac.uk/sites/default/files/report30.pdf
  • Puoti G, Bizzi A, Forloni G, et al. Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol. 2012;11(7):618–628. doi: 10.1016/S1474-4422(12)70063-7
  • Geschwind MD. Prion diseases. Continuum (Minneap Minn). 2015;21(6):1612–1638. doi: 10.1212/CON.0000000000000251
  • Zerr I, Parchi P. Sporadic Creutzfeldt-Jakob disease. Handb Clin Neurol. 2018;153:155–174.
  • Krasnianski A, Kaune J, Jung K, et al. First symptom and initial diagnosis in sporadic CJD patients in Germany. J Neurol. 2014;261(9):1811–1817. doi: 10.1007/s00415-014-7410-z
  • Parchi P, Castellani R, Capellari S, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol. 1996;39:767–778. doi: 10.1002/ana.410390613
  • Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol. 1999;46(2):224–233. doi: 10.1002/1531-8249(199908)46:2<224:AID-ANA12>3.0.CO;2-W
  • Kovács GG, Puopolo M, Ladogana A, et al. Genetic prion disease: the EUROCJD experience. Hum Genet. 2005;118(2):166–174. doi: 10.1007/s00439-005-0020-1
  • Mead S, Lloyd S, Collinge J. Genetic factors in mammalian prion diseases. Ann Rev Genet. 2019;53(1):117–147. doi: 10.1146/annurev-genet-120213-092352
  • Zerr I, Schmitz M, Genetic Prion Disease. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003 Mar 27. [cited 2023 Aug 5]; 1993–2023 Available from: https://www.ncbi.nlm.nih.gov/books/NBK1229/
  • Goldman JS, Vallabh SM. Genetic counseling for prion disease: updates and best practices. Genet Med. 2022;24(10):1993–2003. doi: 10.1016/j.gim.2022.06.003
  • Medori R, Tritschler HJ. Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism. Am J Hum Genet. 1993;53:822–827.
  • Parchi P, Petersen RB, Chen SG, et al. Molecular pathology of fatal familial insomnia. Brain Pathol. 1998;8:539–548. doi: 10.1111/j.1750-3639.1998.tb00176.x
  • Doh-Ura K, Tateishi J, Sasaki H, et al. Pro—-leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun. 1989;163:974–979. doi: 10.1016/0006-291X(89)92317-6
  • Will RG. Acquired prion disease: iatrogenic CJD, variant CJD, kuru. Br Med Bull. 2003;66(1):255–265. doi: 10.1093/bmb/66.1.255
  • Koutsoumanis K, Allende A, Alvarez-Ordoňez A, et al. Update on chronic wasting disease (CWD) III. EFSA J. 2019;17(11):e05863. doi: 10.2903/j.efsa.2019.5863
  • Rivera NA, Brandt AL, Novakofski JE, et al. Chronic wasting disease in cervids: prevalence, impact and management strategies. Vet Med. 2019;10:123–139. doi: 10.2147/VMRR.S197404
  • Gambetti P, Kong Q, Zou W, et al. Sporadic and familial CJD: classification and characterization. Br Med Bull. 2003;66:213–239. doi: 10.1093/bmb/66.1.213
  • Watson N, Brandel JP, Green A, et al. The importance of ongoing international surveillance for Creutzfeldt-Jakob disease. Nat Rev Neurol. 2021;17:362–379. doi: 10.1038/s41582-021-00488-7
  • Zeidler M, Gibbs CJ. WHO manual for strengthening diagnosis and surveillance of Creutzfeldt-Jakob disease. Francois Meslin, Geneva: World Health Organization; 1998. [cited 2023 Aug 4]; Available from: https://apps.who.int/iris/bitstream/handle/10665/66394/WHO_EMC_ZDI_98.11.pdf?sequence=1&isAllowed=y
  • Diagnostic criteria. 1.SPORADIC CJD (from 2017). Edinburgh: The National CJD Research & Surveillance Unit (NCJDRSU); 2017. [cited 2023 Aug 5]; Available from: http://www.cjd.ed.ac.uk/sites/default/files/criteria.pdf
  • CDC’s Diagnostic Criteria for Creutzfeldt-Jakob Disease (CJD). 2018. Atlanta: centers for disease Control and Prevention (CDC), 2018. [cited 2023 Aug 5]; Available from: https://www.cdc.gov/prions/cjd/diagnostic-criteria.html
  • Hermann P, Zerr I. Rapidly progressive dementias - aetiologies, diagnosis and management. Nat Rev Neurol. 2022;18:363–376.
  • Mead S, Rudge P. CJD mimics and chameleons. Pract Neurol. 2017 Apr;17(2):113–121. doi: 10.1136/practneurol-2016-001571
  • Mbizvo GK, Ziso B, Larner AJ. Epilepsy and prion diseases: a narrative review. Epilepsy Behav. 2021;115:107630. doi: 10.1016/j.yebeh.2020.107630
  • Baiardi S, Capellari S, Bartoletti Stella A, et al. Unusual clinical presentations challenging the early clinical diagnosis of Creutzfeldt-Jakob disease. J Alzheimers Dis. 2018;64(4):1051–1065. doi: 10.3233/JAD-180123
  • Mead S, Reilly MM. A new prion disease: relationship with central and peripheral amyloidosis. Nat Rev Neurol. 2015;11:90–97. doi: 10.1038/nrneurol.2014.263
  • Hsiao K, Meiner Z, Kahana E, et al. Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease. N Engl J Med. 1991;324:1091–1097. doi: 10.1056/NEJM199104183241604
  • Breithaupt M, Romero C, Kallenberg K, et al. Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene. Alzheimer Dis Assoc Disord. 2013;27(1):87–90. doi: 10.1097/WAD.0b013e31824d578a
  • Mouillet-Richard S, Teil C, Lenne M, et al. Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease. J Neurol Sci. 1999;168(2):141–144. doi: 10.1016/S0022-510X(99)00179-3
  • Qina T, Sanjo N, Hizume M, et al. Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene. BMJ Open. 2014;4(5):e004968. doi: 10.1136/bmjopen-2014-004968
  • Webb TE, Poulter M, Beck J, et al. Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain. 2008;131(10):2632–2646. doi: 10.1093/brain/awn202
  • Tesar A, Matej R, Kukal J, et al. Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome. Ann Neurol. 2019;86:643–652. doi: 10.1002/ana.25579
  • Zhang J, Chu M, Tian Z, et al. Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions. J Neurol Neurosurg Psychiatry. 2022;93(3):291–297. doi: 10.1136/jnnp-2021-327247
  • Moore RC, Xiang F, Monaghan J, et al. Huntington disease phenocopy is a familial prion disease. Am J Hum Genet. 2001;69(6):1385–1388. doi: 10.1086/324414
  • Oldoni E, Fumagalli GG, Serpente M, et al. PRNP P39L variant is a rare cause of frontotemporal dementia in Italian population. J Alzheimers Dis. 2016;50(2):353–357. doi: 10.3233/JAD-150863
  • Gambetti P, Parchi P, Petersen RB, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. Brain Pathol. 1995;5(1):43–51. doi: 10.1111/j.1750-3639.1995.tb00576.x
  • Young K, Clark HB, Piccardo P, et al. Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129. Brain Res Mol Brain Res. 1997;44:147–150. doi: 10.1016/S0169-328X(96)00251-3
  • Ghetti B, Piccardo P, Spillantini MG, et al. Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP. Proc Natl Acad Sci U S A. 1996;93(2):744–748. doi: 10.1073/pnas.93.2.744
  • Mead S, Gandhi S, Beck J, et al. A novel prion disease associated with diarrhea and autonomic neuropathy. N Engl J Med. 2013;369(20):1904–1914. doi: 10.1056/NEJMoa1214747
  • Hamada S, Takahashi-Iwata I, Satoh K, et al. Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia. Hum Genome Var. 2023;10(1):10. doi: 10.1038/s41439-023-00237-w
  • Nan H, Liu L, Chen Z, et al. Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer’s disease and frontotemporal dementia. Clinical Genetics. 2023;104(3):350–355. Online ahead of print. doi: 10.1111/cge.14354
  • Zerr I, Kallenberg K, Summers DM, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009;132:2659–2568.
  • Rudge P, Hyare H, Green A, et al. Imaging and CSF analyses effectively distinguish CJD from its mimics. J Neurol Neurosurg Psychiatry. 2018;89(5):461–466. doi: 10.1136/jnnp-2017-316853
  • Hermann P, Laux M, Glatzel M, et al. Validation and utilization of amended diagnostic criteria in Creutzfeldt-Jakob disease surveillance. Neurology. 2018;91(4):e331–e338. doi: 10.1212/WNL.0000000000005860
  • Bizzi A, Pascuzzo R, Blevins J, et al. Evaluation of a new criterion for detecting prion disease with diffusion magnetic resonance imaging. JAMA Neurol. 2020;77(9):1141–1149. doi: 10.1001/jamaneurol.2020.1319
  • Vitali P, Maccagnano E, Caverzasi E, et al. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology. 2011;76(20):1711–1719. doi: 10.1212/WNL.0b013e31821a4439
  • Staffaroni AM, Elahi FM, McDermott D, et al. Neuroimaging in dementia. Semin Neurol. 2017;37(5):510–537. doi: 10.1055/s-0037-1608808
  • Carswell C, Thompson A, Lukic A, et al. MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease. BMC neurol. 2012;12(1):153. doi: 10.1186/1471-2377-12-153
  • Yasuda M, Sugiyama A, Hokkoku H, et al. Propagation of diffusion-weighted MRI abnormalities in the preclinical stage of sporadic Creutzfeldt-Jakob disease. Neurology. 2022;99(16):699–702. doi: 10.1212/WNL.0000000000201221
  • Koizumi R, Ueda N, Mugita A, et al. Case report: extremely early detection of preclinical magnetic resonance imaging abnormality in Creutzfeldt-Jakob disease with the V180I mutation. Front Neurol. 2021;12:751750. doi: 10.3389/fneur.2021.751750
  • Jesuthasan A, Sequeira D, Hyare H, et al. Assessing initial MRI reports for suspected CJD patients. J Neurol. 2022;269(8):4452–4458. doi: 10.1007/s00415-022-11087-x
  • Gaudino S, Gangemi E, Colantonio R, et al. Neuroradiology of human prion diseases, diagnosis and differential diagnosis. Radiol Med. 2017;122(5):369–385. doi: 10.1007/s11547-017-0725-y
  • Meissner B, Kallenberg K, Sanchez-Juan P, et al. MRI lesion profiles in sporadic Creutzfeldt-Jakob disease. Neurology. 2009;72(23):1994–2001. doi: 10.1212/WNL.0b013e3181a96e5d
  • Hamaguchi T, Kitamoto T, Sato T, et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology. 2005;64(4):643–648. doi: 10.1212/01.WNL.0000151847.57956.FA
  • Hamaguchi T, Sanjo N, Ae R, et al. MM2-type sporadic Creutzfeldt-Jakob disease: new diagnostic criteria for MM2-cortical type. J Neurol Neurosurg Psychiatry. 2020;91(11):1158–1165. doi: 10.1136/jnnp-2020-323231
  • Meissner B, Körtner K, Bartl M, et al. Sporadic Creutzfeldt-Jakob disease: magnetic resonance imaging and clinical findings. Neurology. 2004;63:450–456. doi: 10.1212/01.WNL.0000136225.80445.C9
  • Pascuzzo R, Oxtoby NP, Young AL, et al. Prion propagation estimated from brain diffusion MRI is subtype dependent in sporadic Creutzfeldt-Jakob disease. Acta Neuropathol. 2020;140:169–181. doi: 10.1007/s00401-020-02168-0
  • Appleby BS, Shetty S, Elkasaby M, et al. Genetic aspects of human prion diseases. Front Neurol. 2022;13:1003056. doi: 10.3389/fneur.2022.1003056
  • Zerr I, Bodemer M, Gefeller O, et al. Detection of 14-3-3 protein in the cerebrospinal fluid supports the diagnosis of Creutzfeldt-Jakob disease. Ann Neurol. 1998;43(1):32–40. doi: 10.1002/ana.410430109
  • Muayqil T, Gronseth G, Camicioli R. Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the guideline development subcommittee of the American Academy of Neurology. Neurology. 2012;79(14):1499–1506. doi: 10.1212/WNL.0b013e31826d5fc3
  • 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
  • Altuna M, Ruiz I, Zelaya MV, et al. Role of biomarkers for the diagnosis of prion diseases: a narrative review. Med (Kaunas). 2022;58(4):473. doi: 10.3390/medicina58040473
  • Lattanzio F, Abu-Rumeileh S, Franceschini A, et al. Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels. Acta Neuropathol. 2017;133(4):559–578. doi: 10.1007/s00401-017-1683-0
  • Stoeck K, Sanchez-Juan P, Gawinecka J, et al. Cerebrospinal fluid biomarker supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias: a longitudinal multicentre study over 10 years. Brain. 2012;135:3051–3061. doi: 10.1093/brain/aws238
  • Dorey A, Tholance Y, Vighetto A, et al. Association of cerebrospinal fluid prion protein levels and the distinction between Alzheimer disease and Creutzfeldt-Jakob disease. JAMA Neurol. 2015;72(3):267–275. doi: 10.1001/jamaneurol.2014.4068
  • Abu Rumeileh S, Lattanzio F, Stanzani M, et al. Diagnostic accuracy of a combined analysis of cerebrospinal fluid t-PrP, t-tau, p-tau, and Aβ42 in the differential diagnosis of Creutzfeldt-Jakob disease from Alzheimer’s disease with Emphasis on atypical disease variants. J Alzheimers Dis. 2017;55:1471–1480. doi: 10.3233/JAD-160740
  • Otto M, Wiltfang J, Cepek L, et al. Tau protein and 14-3-3 protein in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology. 2002;58:192–197. doi: 10.1212/WNL.58.2.192
  • Franceschini A, Baiardi S, Hughson AG, et al. High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions. Sci Rep. 2017;7(1):10655. doi: 10.1038/s41598-017-10922-w
  • Li QX, Varghese S, Sarros S, et al. CSF tau supplements 14-3-3 protein detection for sporadic Creutzfeldt-Jakob disease diagnosis while transitioning to next generation diagnostics. J Clin Neurosci. 2018;50:292–293. doi: 10.1016/j.jocn.2018.01.064
  • Skillbäck T, Rosén C, Asztely F, et al. Diagnostic performance of cerebrospinal fluid total tau and phosphorylated tau in Creutzfeldt-Jakob disease: results from the Swedish mortality registry. JAMA Neurol. 2014;71(4):476–483. doi: 10.1001/jamaneurol.2013.6455
  • Riemenschneider M, Wagenpfeil S, Vanderstichele H, et al. Phospho-tau/total tau ratio in cerebrospinal fluid discriminates Creutzfeldt-Jakob disease from other dementias. Mol Psychiatry. 2003;8:343–347. doi: 10.1038/sj.mp.4001220
  • Khalil M, Teunissen CE, Otto M, et al. Neurofilaments as biomarkers in neurological disorders. Nat Rev Neurol. 2018;14(10):577–589. doi: 10.1038/s41582-018-0058-z
  • Abu-Rumeileh S, Capellari S, Stanzani-Maserati M, et al. The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias. Alzheimers Res Ther. 2018;10(1):3. doi: 10.1186/s13195-017-0331-1
  • Zerr I, Schmitz M, Karch A, et al. Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases. Alzheimers Dement. 2018;14(6):751–763. doi: 10.1016/j.jalz.2017.12.008
  • 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. Mol Psychiatry. 2021;26(10):5955–5966. doi: 10.1038/s41380-021-01045-w
  • Kanata E, Golanska E, Villar-Piqué A, et al. Cerebrospinal fluid neurofilament light in suspected sporadic Creutzfeldt-Jakob disease. J Clin Neurosci. 2019;60:124–127. doi: 10.1016/j.jocn.2018.09.031
  • Abu-Rumeileh S, Baiardi S, Polischi B, et al. Diagnostic value of surrogate CSF biomarkers for Creutzfeldt-Jakob disease in the era of RT-QuIC. J Neurol. 2019;266:3136–3143. doi: 10.1007/s00415-019-09537-0
  • Llorens F, Kruse N, Schmitz M, et al. Evaluation of α-synuclein as a novel cerebrospinal fluid biomarker in different forms of prion diseases. Alzheimer’s Dement. 2017;13(6):710–719. doi: 10.1016/j.jalz.2016.09.013
  • Mastrangelo A, Baiardi S, Zenesini C, et al. Diagnostic and prognostic performance of CSF α-synuclein in prion disease in the context of rapidly progressive dementia. Alzheimer’s Dement. 2021;13(1):e12214. doi: 10.1002/dad2.12214
  • 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.
  • Bélondrade M, Nicot S, Mayran C, et al. Sensitive protein misfolding cyclic amplification of sporadic Creutzfeldt-Jakob disease prions is strongly seed and substrate dependent. Sci Rep. 2021;11:4058. doi: 10.1038/s41598-021-83630-1
  • Barria MA, Lee A, Green AJ, et al. Rapid amplification of prions from variant Creutzfeldt-Jakob disease cerebrospinal fluid. J Pathol Clin Res. 2018;4:86–92. doi: 10.1002/cjp2.90
  • Bougard D, Brandel JP, Bélondrade M, et al. Detection of prions in the plasma of presymptomatic and symptomatic patients with variant Creutzfeldt-Jakob disease. Sci Transl Med. 2016;8:370ra182. doi: 10.1126/scitranslmed.aag1257
  • Concha-Marambio L, Pritzkow S, Moda F, et al. Detection of prions in blood from patients with variant Creutzfeldt-Jakob disease. Sci Transl Med. 2016;8(370):370ra183. doi: 10.1126/scitranslmed.aaf6188
  • Moda F, Gambetti P, Notari S, et al. Prions in the urine of patients with variant Creutzfeldt-Jakob disease. N Engl J Med. 2014;371:530–539. doi: 10.1056/NEJMoa1404401
  • Cazzaniga FA, Bistaffa E, De Luca CMG, et al. PMCA-Based detection of prions in the olfactory mucosa of patients with sporadic Creutzfeldt-Jakob disease. Front Aging Neurosci. 2022;14:848991. doi: 10.3389/fnagi.2022.848991
  • Atarashi R, Satoh K, Sano K, et al. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med. 2011;17(2):175–178. doi: 10.1038/nm.2294
  • Orrú CD, Groveman BR, Hughson AG, et al. Rapid and sensitive RT-QuIC detection of human Creutzfeldt-Jakob disease using cerebrospinal fluid. MBio. 2015;6(1):e02451–14. doi: 10.1128/mBio.02451-14
  • 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 Neurol. 2017;74(2):155–162. doi: 10.1001/jamaneurol.2016.4614
  • Foutz A, Appleby BS, Hamlin C, et al. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Ann Neurol. 2017;81(1):79–92. doi: 10.1002/ana.24833
  • Rhoads DD, Wrona A, Foutz A, et al. Diagnosis of prion diseases by RT-QuIC results in improved surveillance. Neurology. 2020;95:e1017–e1026. doi: 10.1212/WNL.0000000000010086
  • Cramm M, Schmitz M, Karch A, et al. Stability and reproducibility underscore utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease. Mol Neurobiol. 2016;53(3):1896–1904. doi: 10.1007/s12035-015-9133-2
  • Orrú CD, Bongianni M, Tonoli G, et al. A test for Creutzfeldt-Jakob disease using nasal brushings. N Engl J Med. 2014 7;371:519–529. doi: 10.1056/NEJMoa1315200.
  • Groveman BR, Orrú CD, Hughson AG, et al. Extended and direct evaluation of RT-QuIC assays for Creutzfeldt-Jakob disease diagnosis. Ann Clin Transl Neurol. 2016;4:139–144. doi: 10.1002/acn3.378
  • Fiorini M, Iselle G, Perra D, et al. High diagnostic accuracy of RT-QuIC assay in a prospective study of patients with suspected sCJD. Int J Mol Sci. 2020;21(3):880. doi: 10.3390/ijms21030880
  • Orrú CD, Yuan J, Appleby BS, et al. Prion seeding activity and infectivity in skin samples from patients with sporadic Creutzfeldt-Jakob disease. Sci Transl Med. 2017;9(417):eaam7785. doi: 10.1126/scitranslmed.aam7785
  • Mammana A, Baiardi S, Rossi M, et al. Detection of prions in skin punch biopsies of Creutzfeldt-Jakob disease patients. Ann Clin Transl Neurol. 2020;7:559–564. doi: 10.1002/acn3.51000
  • Schmitz M, Silva Correia S, Hermann P, et al. Detection of prion protein seeding activity in tear fluids. N Engl J Med. 2023;388(19):1816–1817. doi: 10.1056/NEJMc2214647
  • Baiardi S, Redaelli V, Ripellino P, et al. Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry. 2019;90(4):424–427. doi: 10.1136/jnnp-2018-319221
  • Shi S, Mitteregger-Kretzschmar G, Giese A, et al. Establishing quantitative real-time quaking-induced conversion (qRT-QuIC) for highly sensitive detection and quantification of PrPSc in prion-infected tissues. Acta Neuropathol Commun. 2013;1(1):44. doi: 10.1186/2051-5960-1-44
  • Honda H, Mori S, Watanabe A, et al. Abnormal prion protein deposits with high seeding activities in the skeletal muscle, femoral nerve, and scalp of an autopsied case of sporadic Creutzfeldt-Jakob disease. Neuropathology. 2021;41:152–158. doi: 10.1111/neup.12717
  • Henderson DM, Denkers ND, Hoover CE, et al. Progression of chronic wasting disease in white-tailed deer analyzed by serial biopsy RT-QuIC and immunohistochemistry. PLoS One. 2020;15(2):e0228327. doi: 10.1371/journal.pone.0228327
  • Tewari D, Steward D, Fasnacht M, et al. Detection by real-time quaking-induced conversion (RT-QuIC), ELISA, and IHC of chronic wasting disease prion in lymph nodes from Pennsylvania white-tailed deer with specific PRNP genotypes. J Vet Diagn Invest. 2021;33(5):943–948. doi: 10.1177/10406387211021411
  • Schmitz M, Cramm M, Llorens F, et al. The real-time quaking-induced conversion assay for detection of human prion disease and study of other protein misfolding diseases. Nat Protoc. 2016;11(11):2233–2242. doi: 10.1038/nprot.2016.120
  • Orrú CD, Groveman BR, Raymond LD, et al. Bank vole prion protein as an apparently Universal substrate for RT-QuIC-Based detection and discrimination of prion strains. PLOS Pathog. 2015;11(6):e1004983. doi: 10.1371/journal.ppat.1004983
  • Orrú CD, Groveman BR, Foutz A, et al. Ring trial of 2nd generation RT-QuIC diagnostic tests for sporadic CJD. Ann Clin Transl Neurol. 2020;7(11):2262–2271. doi: 10.1002/acn3.51219
  • Hayashi Y, Iwasaki Y, Takekoshi A, et al. An autopsy-verified case of FTLD-TDP type a with upper motor neuron-predominant motor neuron disease mimicking MM2-thalamic-type sporadic Creutzfeldt-Jakob disease. Prion. 2016;10(6):492–501. doi: 10.1080/19336896.2016.1243192
  • Cracco L, Appleby BS, Gambetti P. Fatal familial insomnia and sporadic fatal insomnia. Handb Clin Neurol. 2018;153:271–299.
  • Hermann P, Schmitz M, Cramm M, et al. Application of real-time quaking-induced conversion in Creutzfeldt-Jakob disease surveillance. J Neurol. 2023;270:2149–2161. doi: 10.1007/s00415-022-11549-2
  • Hayashi Y, Iwasaki Y, Yoshikura N, et al. An autopsy-verified case of steroid-responsive encephalopathy with convulsion and a false-positive result from the real-time quaking-induced conversion assay. Prion. 2017;11(4):284–292. doi: 10.1080/19336896.2017.1345416
  • Zanusso G, Monaco S, Pocchiari M, et al. Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease. Nat Rev Neurol. 2016;12:325–333. doi: 10.1038/nrneurol.2016.65
  • Nakagaki T, Kaneko M, Satoh K, et al. Detection of prions in a cadaver for anatomical practice. N Engl J Med. 2022;386(23):2245–2246. doi: 10.1056/NEJMc2204116
  • Yuan Q, Rowden G, Wolf TM, et al. Sensitive detection of chronic wasting disease prions recovered from environmentally relevant surfaces. Environ Int. 2022;166:107347. doi: 10.1016/j.envint.2022.107347
  • Mok TH, Nihat A, Majbour N, et al. Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease. Brain. 2023;146(6):2570–2583. doi: 10.1093/brain/awad101
  • Steinhoff BJ, Zerr I, Glatting M, et al. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol. 2004;56(5):702–708. doi: 10.1002/ana.20261
  • Atarashi R, Moore RA, Sim VL, et al. Ultrasensitive detection of scrapie prion protein using seeded conversion of recombinant prion protein. Nat Methods. 2007;4(8):645–650. doi: 10.1038/nmeth1066
  • Watson N, Hermann P, Ladogana A, et al. Validation of revised international Creutzfeldt-Jakob disease surveillance network diagnostic criteria for sporadic Creutzfeldt-Jakob disease. JAMA Netw Open. 2022;5(1):e2146319. doi: 10.1001/jamanetworkopen.2021.46319
  • Love S, Chalmers K, Ince P, et al. Development, appraisal, validation and implementation of a consensus protocol for the assessment of cerebral amyloid angiopathy in post-mortem brain tissue. Am J Neurodegener Dis. 2014;3:19–32.
  • Krasnianski A, Meissner B, Schulz-Schaeffer W, et al. Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease. Arch Neurol. 2006;63(6):876–880. doi: 10.1001/archneur.63.6.876
  • Nozaki I, Hamaguchi T, Sanjo N, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain. 2010;133(10):3043–3057. doi: 10.1093/brain/awq216
  • Gadjusek DC, Zigas VK. Clinical, pathological and epidemiological study of an acute progressive degenerative disease of the central nervous system among natives of the Eastern Highlands of new Guinea. Am j med. 1959;26:442–469. doi: 10.1016/0002-9343(59)90251-7
  • Collinge J, Whitfield J, McKintosh E, et al. Kuru in the 21st century–an acquired human prion disease. Lancet. 2006;367:2068–2074. doi: 10.1016/S0140-6736(06)68930-7
  • Duffy P, Wolf J, Collins G, et al. Letter: possible person-to-person transmission of Creutzfeldt-Jakob disease. N Engl J Med. 1974;290:692–693.
  • Koch TK, Berg BO, De Armond SJ, et al. Creutzfeldt-Jakob disease in a young adult with idiopathic hypopituitarism. Possible relation to the administration of cadaveric human growth hormone. N Engl J Med. 1985;313:731–733. doi: 10.1056/NEJM198509193131206
  • Brown P, Brandel JP, Sato T, et al. Iatrogenic Creutzfeldt-Jakob disease, final assessment. Emerg Infect Dis. 2012;18:901–917. doi: 10.3201/eid1806.120116
  • Tee BL, Longoria Ibarrola EM, Geschwind MD. Prion diseases. Neurol Clin. 2018;36(4):865–897. doi: 10.1016/j.ncl.2018.07.005
  • Llorens F, Villar-Piqué A, Hermann P, et al. Diagnostic accuracy of prion disease biomarkers in Iatrogenic Creutzfeldt-Jakob disease. Biomolecules. 2020;10(2):290. doi: 10.3390/biom10020290
  • Sakai K, Hamaguchi T, Sanjo N, et al. Diffusion-weighted magnetic resonance imaging in dura mater graft-associated Creutzfeldt-Jakob disease. J Neurol Sci. 2020;418:117094. doi: 10.1016/j.jns.2020.117094
  • Kobayashi A, Asano M, Mohri S, et al. A traceback phenomenon can reveal the origin of prion infection. Neuropathology. 2009;29(5):619–624. doi: 10.1111/j.1440-1789.2008.00973.x
  • Doh-Ura K, Kitamoto T, Sakaki Y, et al. CJD discrepancy. Nature. 1991;353(6347):801–802. doi: 10.1038/353801b0
  • Rudge P, Jaunmuktane Z, Adlard P, et al. Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years. Brain. 2015;138(11):3386–3399. doi: 10.1093/brain/awv235
  • Wells GA, Scott AC, Johnson CT, et al. A novel progressive spongiform encephalopathy in cattle. Vet Rec. 1987;121(18):419–420. doi: 10.1136/vr.121.18.419
  • Collee JG, Bradley R. BSE: a decade on–part I. Lancet. 1997;349:636–641. doi: 10.1016/S0140-6736(96)01310-4
  • Collee JG, Bradley R. BSE: a decade on–part 2. Lancet. 1997;349:715–721. doi: 10.1016/S0140-6736(96)08496-6
  • Will RG, Ironside JW, Zeidler M, et al. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet. 1996;347(9006):921–925. doi: 10.1016/S0140-6736(96)91412-9
  • Collie DA, Summers DM, Sellar RJ, et al. Diagnosing variant Creutzfeldt-Jakob disease with the pulvinar sign: MR imaging findings in 86 neuropathologically confirmed cases. AJNR Am J Neuroradiol. 2003;24:1560–1569.
  • Ritchie DL, Peden AH, Barria MA. Variant CJD: reflections a quarter of a century on. Pathogens. 2021;10(11):1413. doi: 10.3390/pathogens10111413
  • Ironside JW, McCardle L, Horsburgh A, et al. Pathological diagnosis of variant Creutzfeldt-Jakob disease. APMIS. 2002;110(1):79–87. doi: 10.1034/j.1600-0463.2002.100110.x
  • Will RG, Zeidler M, Stewart GE, et al. Diagnosis of new variant Creutzfeldt-Jakob disease. Ann Neurol. 2000;47(5):575–582. doi: 10.1002/1531-8249(200005)47:5<575:AID-ANA4>3.0.CO;2-W
  • Llewelyn CA, Hewitt PE, Knight RS, et al. Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. Lancet. 2004;363(9407):417–421. doi: 10.1016/S0140-6736(04)15486-X
  • Risk assessment of the transmission of vCJD by blood components. London: Department of Health and Social Care; 2019. [cited 2023 Aug 5]; Available from: https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/843533/risk-assessment-of-the-transmission-of-vcjd-by-blood-components.pdf
  • Mok T, Jaunmuktane Z, Joiner S, et al. Variant Creutzfeldt-Jakob disease in a patient with heterozygosity at PRNP codon 129. N Engl J Med. 2017;376:292–294.
  • Williams ES, Young S. Chronic wasting disease of captive mule deer: a spongiform encephalopathy. J Wildl Dis. 1980;16(1):89–98. doi: 10.7589/0090-3558-16.1.89
  • Benestad SL, Telling GC. Chronic wasting disease: an evolving prion disease of cervids. Handb Clin Neurol. 2018;153:135–151.
  • Expanding Distribution of Chronic Wasting Disease 2023 Jul 5. Madison (WI): National Wildlife Health Center, The U.S Geological Survey. [cited 2023 Aug 5]; Available from: https://www.usgs.gov/centers/nwhc/science/expanding-distribution-chronic-wasting-disease.
  • Pritzkow PS. Transmission, Strain diversity, and zoonotic potential of chronic wasting disease. Viruses. 2022;14(7):1390. doi: 10.3390/v14071390
  • Mathiason CK, Powers JG, Dahmes SJ, et al. Infectious prions in the saliva and blood of deer with chronic wasting disease. Science. 2006;314(5796):133–136. doi: 10.1126/science.1132661
  • Tamgüney G, Miller MW, Wolfe LL, et al. Asymptomatic deer excrete infectious prions in faeces. Nature. 2009;461(7263):529–532. doi: 10.1038/nature08289
  • Haley NJ, Seelig DM, Zabel MD, et al. Detection of CWD prions in urine and saliva of deer by transgenic mouse bioassay. PLoS One. 2009;4(3):e4848. doi: 10.1371/journal.pone.0004848
  • Otero A, Duque Velasquez C, McKenzie D, et al. Emergence of CWD strains. Cell Tissue Res. 2023;392(1):135–148. doi: 10.1007/s00441-022-03688-9
  • Belay ED, Gambetti P, Schonberger LB, et al. Creutzfeldt-Jakob disease in unusually young patients who consumed venison. Arch Neurol. 2001;58(10):1673–1678. doi: 10.1001/archneur.58.10.1673
  • Davis, JP, Kazmierczak J, Wegner M, et al. Fatal Degenerative Neurologic Illnesses in Men Who Participated in Wild Game Feasts --- Wisconsin, 2002, Morbidity and Mortality Weekly Report. Atlanta: Centers for disease Control and Prevention (CDC); 2003;52(07):12–127. [Accessed 2023 Aug 5]. https://www.cdc.gov/mmwr/preview/mmwrhtml/mm5207a1.htm
  • Anderson CA, Bosque P, Filley CM, et al. Colorado surveillance program for chronic wasting disease transmission to humans: lessons from 2 highly suspicious but negative cases. Arch Neurol. 2007;64(3):439–441. doi: 10.1001/archneur.64.3.439
  • Abrams JY, Maddox RA, Harvey AR, et al. Travel history, hunting, and venison consumption related to prion disease exposure, 2006–2007 FoodNet population survey. J Am Diet Assoc. 2011;111:858–863. doi: 10.1016/j.jada.2011.03.015
  • Race B, Meade-White KD, Miller MW, et al. Susceptibilities of nonhuman primates to chronic wasting disease. Emerg Infect Dis. 2009;15(9):1366–1376. doi: 10.3201/eid1509.090253
  • Race B, Meade-White KD, Phillips K, et al. Chronic wasting disease agents in nonhuman primates. Emerg Infect Dis. 2014;20(5):833–837. doi: 10.3201/eid2005.130778
  • Race B, Williams K, Orrú CD, et al. Lack of transmission of chronic wasting disease to cynomolgus macaques. J Virol. 2018;92:e00550–18. doi: 10.1128/JVI.00550-18
  • Race B, Baune C, Williams K, et al. Second passage experiments of chronic wasting disease in transgenic mice overexpressing human prion protein. Vet Res. 2022;53(1):111. doi: 10.1186/s13567-022-01130-0
  • Wang Z, Qin K, Camacho MV, et al. Generation of human chronic wasting disease in transgenic mice. Acta Neuropathol Commun. 2021;9(1):158. doi: 10.1186/s40478-021-01262-y

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