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01-04-2021 | Creutzfeldt-Jakob Disease | Review article

A meta-analysis on RT-QuIC for the diagnosis of sporadic CJD

Authors: Simela Chatzikonstantinou, Dimitrios Kazis, Eleni Karantali, Mark Knights, Jack McKenna, Foivos Petridis, Ioannis Mavroudis

Published in: Acta Neurologica Belgica | Issue 2/2021

Abstract

Creutzfeld–Jakob disease (CJD) is a fatal neurodegenerative disease which belongs to the family of transmissible spongiform encephalopathies (TSEs), or prion diseases. Historically, CJD diagnosis has been based on the combination of clinical features and in vivo markers, including CSF protein assays, MRI and EEG changes. Brain-derived CSF proteins, such as 14-3-3, t-tau and p-tau have been largely used to support the diagnosis of probable CJD, although with certain limitations concerning sensitivity and specificity of these tests. More recently, a new method for the pre-mortem diagnosis of sporadic CJD has been developed, based on the ability of PrPsc to induce the polymerization of protease-sensitive recombinant PrP (PrPsen) into amyloid fibrils, and is known as Real-Time Quaking- Induced Conversion (RT-QuIC) assay allows the detection of > 1 fg of PrPsc in diluted CJD brain homogenate and a variety of biological tissues and fluids. In the present study, we did a meta-analysis on the liability of RT-QuIC method in the diagnosis of sporadic CJD, in comparison to 14-3-3 and Tau protein. Twelve studies were finally included in the statistical analysis which showed that RT-QuIC has a very high specificity and comparable sensitivity to 14-3-3 protein and Tau protein in the CSF, and hence can be used as a reliable biomarker for the diagnosis of sporadic CJD.

Franceschini A, Baiardi S, Hughson A, McKenzie N, Moda F, Rossi M, Capillari S, Green A, Giaccone G, Caughey B, Parchi P (2017) High diagnostic value of second generation CSF RT QuIC across wide spectrum of CJD prions. Sci Rep 7(1):10655. https://doi.org/10.1038/s41598-017-10922-wCrossRefPubMedPubMedCentral

Lattanzio F, Abu-Rumeileh S, Franceschini A, Kai H, Amore G, Poggiolini I, Rossi M, Baiardi S, McGuire L, Ladogana A, Pocchiari M, Green A, Capillari S, Parchi P (2017) 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 133(4):559–578. https://doi.org/10.1007/s00401-017-1683-0CrossRefPubMedPubMedCentral

Foutz A, Appleby B, Hamlin C, Liu X, Yang S, Cohen Y, Chen W, Blevins J, Fausett C, Wang H, Gambetti P, Zhang S, Hughson A, Tatsuoka C, Schonberger L, Cohen M, Caughey B, Safar J (2017) Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Ann Neurol 81(1):79–92. https://doi.org/10.1002/ana.24833CrossRefPubMedPubMedCentral

Groveman B, Orrù C, Hughson A, Bongianni M, Fiorini M, Imperiale D, Ladogana A, Pocchiari M, Zanusso G, Caughey B (2017) Extended and direct evaluation of RT-QuIC assays for Creutzfeldt-Jakob disease diagnosis. Ann Clin Trans Neurol 4(2):139–144. https://doi.org/10.1002/acn3.378CrossRef

Rudge P, Hyare H, Green A, Collinge J, Mead S (2018) Imaging and CSF analyses effectively distinguish CJD from its mimics. J Neurol Neurosurg Psychiatry 89:461–466. https://doi.org/10.1136/jnnp-2017-316853CrossRefPubMed

Sáanchez-Juan P, Green A, Ladoganna A, Cuadro-Corrales N, Saanchez-Valle R, Mitrováa E, Stoeck K, Sklaviadis T, Kulczycki J, Hess K, Bodemer M, Slivarichová D, Saiz A, Calero M, Ingrosso L, Knight R, Janssens AC, VanDuijin CM, Zerr I (2006) CSF tests in the differential diagnosis of Creutzfeldt–Jacob disease. Neurology 67(4):637–643. https://doi.org/10.1212/01.wnl.0000230159.67128.00CrossRef

Wiser HG, Schindler K, Zumsteg D (2006) EEG in Creutzfeld–Jakob disease. Clin Neurophysiol 117(5):935–951. https://doi.org/10.1016/j.clinph.2005.12.007CrossRef

Atarashi R, Satoh K, Sano K, Fuse T, Yamaguchi N, Ishibashi D, Matsubara T, Nakagaki T, Yamanaka H, Shirabe S, Yamada M, Mizusawa H, Kitamoto T, Klug G, McGlade A, Collins S, Nishida N (2011) Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking induced conversion. Nat Med 17(2):175–178. https://doi.org/10.1038/nm.2294CrossRefPubMed

McGuire L, Poleggi A, Poggiolini I, Suardi S, Grznarova K, Shi S, de Vil Bart, Sarros S, Satoh K, Cheng K, Cramm M, Fairfoul G, Schmitz M, Zerr I, Cras P, Equestre M, Tagliavini F, Atarashi R, Knox D, Collins S, Haik S, Parchi P, Pocchiari M, Green A (2016) Cerebrospinal fluid real-time quaking-induced conversion is a robust and reliable test for sporadic Creutzfeldt–Jakob disease: an international study. Ann Neurol 80(1):160–165. https://doi.org/10.1002/ana.24679CrossRefPubMedPubMedCentral

10.

Atarashi R, Sano K, Satoh K, Nishida N (2011) Real-time quaking-induced conversion A highly sensitive assay for prion detection. Prion 5(3):150–153. https://doi.org/10.4161/pri.5.3.16893CrossRefPubMedPubMedCentral

11.

Orrù C, Groveman B, Hughson A, Zanusso G, Coulthart M, Caughey B (2015) Rapid and sensitive RT-QuIC detection of human Creutzfeldt–Jacob disease using cerebrospinal fluid. mBio 6(1):e02451-14. https://doi.org/10.1128/mBio.02451-14CrossRefPubMedPubMedCentral

12.

Orrù C, Bongianni M, Tonoli G, Ferrari S, Hughson A, Groveman B, Fiorini M, Pocchiari M, Monaco S, Caughey B, Zanusso G (2014) A test for Creutzfeldt–Jakob disease using nasal brushings. N Engl J Med 371(6):519–529. https://doi.org/10.1056/NEJMoa1315200CrossRefPubMedPubMedCentral

13.

Whiting PF, Rutjes AW, Westwood ME, Mallett S, Deeks JJ, Reitsma JB, Leeflang MM, Sterne JA, Bossuyt PM, QUADAS-2 Group (2011) QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann Intern Med. 155(8):529–536. https://doi.org/10.7326/0003-4819-155-8-201110180-00009CrossRefPubMed

14.

Sano K, Satoh K, Atarashi R, Takashima H, Iwasaki Y, Yoshida M, Sanjo N, Murai H, Mizusawa H, Schmitz M, Zerr I, Kim YS, Nishida N (2013) Early detection of abnormal prion protein in genetic human prion diseases now possible using real-time QUIC assay. PLoS One 8:e54915. https://doi.org/10.1371/journal.pone.0054915CrossRefPubMedPubMedCentral

15.

Bongianni M, Orrù C, Groveman B, Sacchetto L, Fiorini M, Tonoli G, Triva G, Capaldi S, Testi S, Ferrari S, Cagnin A, Ladogana A, Poleggi A, Colaizzo E, Tiple D, Vaianella L, Castriciano S, Machioni D, Hughson A, Imperiale D, Cattaruzza T, Fabrizi G, Pocchiari M, Monaco S, Caughey B, Zanusso G (2016) Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples. JAMA Neurol 74(2):155–162. https://doi.org/10.1001/jamaneurol.2016.4614CrossRef

16.

Park JH, Choi YG, Lee YJ, Park SJ, Choi HS, Choi KC, Choi EK, Kim YS (2016) Real-time quaking-induced conversion analysis for the diagnosis of sporadic Creutzfeldt–Jakob disease in Korea. J Clin Neurol 12(1):101–106. https://doi.org/10.3988/jcn.2016.12.1.101CrossRefPubMed

17.

Fiorini M, Iselle G, Perra D et al (2020) High diagnostic accuracy of RT-QuIC assay in a prospective study of patients with suspected sCJD. Int J Mol Sci. 21(3):880. https://doi.org/10.3390/ijms21030880CrossRefPubMedCentral

Title: A meta-analysis on RT-QuIC for the diagnosis of sporadic CJD
Authors: Simela Chatzikonstantinou
Dimitrios Kazis
Eleni Karantali
Mark Knights
Jack McKenna
Foivos Petridis
Ioannis Mavroudis
Publication date: 01-04-2021
Publisher: Springer International Publishing
Keyword: Creutzfeldt-Jakob Disease
Published in: Acta Neurologica Belgica / Issue 2/2021
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-021-01596-3

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A meta-analysis on RT-QuIC for the diagnosis of sporadic CJD

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