Application value of real-time quaking-induced conversion technology in clinical diagnosis of Creutzfeldt-Jakob disease

doi:10.3969/j.issn.1672-6731.2023.04.001

Abstract

Abstract: Creutzfeldt-Jakob disease (CJD) is a group of clinically rare neurodegenerative diseases caused by misfolding of prion proteins, and is the most common type of human prion diseases. Since the prion characteristics were recognized in the 1970s, the diagnostic detection technology has made great progress, especially the real-time quaking-induced conversion (RT-QuIC). This paper describes the pathogenesis of CJD, the mechanism of action of RT-QuIC and its application in the diagnosis of CJD in order to promote the application and development of RT-QuIC technology in the field of CJD.

Key words: Creutzfeldt-Jakob syndrome, Prions, Diagnosis, Review

摘要： 克-雅病是一组由朊蛋白错误折叠引起的临床罕见的神经系统变性疾病，是人类朊病毒病的最常见类型。自20世纪70年代朊病毒特征被认识以来，诊断性检测技术取得长足进展，尤以实时震动诱导转化（RT-QuIC）技术最为突出。本文阐述克-雅病发病机制，RT-QuIC技术作用机制及其在克-雅病诊断中的应用现状，以期促进RT-QuIC技术在我国克-雅病领域的应用与发展。

关键词: 克-亚综合征, 朊病毒, 诊断, 综述

HE Dian. Application value of real-time quaking-induced conversion technology in clinical diagnosis of Creutzfeldt-Jakob disease[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(4): 271-274.

贺电. 应重视实时震动诱导转化技术在克-雅病临床诊断中的应用[J]. 中国现代神经疾病杂志, 2023, 23(4): 271-274.

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References

[1] Gomes Mda M. Creutzfeldt-Jakob disease:one hundred years of participation in the design of the transmissible spongiform encephalopathies[J]. Rev Bras Neurol, 2020, 56:25-28.
[2] Zerr I. Laboratory diagnosis of Creutzfeldt-Jakob disease[J]. N Engl J Med, 2022, 386:1345-1350.
[3] Institute of Viral Disease Prevention and Control, Chinese Center for Disease Control and Prevention. Establishment of the diagnosis and surveillance system for human prion diseases in China and the relevant basic and applied studies[DB/OL]. Beijing:Chinese Center for Disease Control and Prevention. 2011(2011-04-26)[2023-04-10]. https://www.chinacdc.cn/kjxm/kjcg/201104/t20110426_42273.htm.[中国疾病预防控制中心病毒病预防控制所. 我国人类朊病毒病检测监测体系建立及相关基础和应用研究[DB/OL]. 北京:中国疾病预防控制中心. 2011(2011-04-26)[2023-04-10]. https://www.chinacdc.cn/kjxm/kjcg/201104/t20110426_42273.htm.]
[4] Neuroinfectious Diseases and Cerebrospinal Fluid Cytology, Neurology Branch, Chinese Medical Association. Chinese guidelines for diagnosis of Creutzfeldt-Jakob disease 2021[J]. Zhonghua Shen Jing Ke Za Zhi, 2022, 55:1215-1224.[中华医学会神经病学分会神经感染性疾病与脑脊液细胞学学组. 克-雅病中国诊断指南2021[J]. 中华神经科杂志, 2022, 55:1215-1224.]
[5] Dong XP, Han J, Chen C, Shi Q, Wang DX, Gao C, Tian C, Xia SL, Li XH, Zhang XC. WS/T 562-2017 Creutzfeldt-Jakob disease[S]. Beijing:National Health and Family Planning Commission, 2017.[董小平, 韩俊, 陈操, 石琦, 王得新, 高晨, 田婵, 夏胜利, 李洵桦, 张秀春. WS/T 562-2017克-雅病诊断[S]. 北京:国家卫生和计划生育委员会, 2017.]
[6] Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heinemann U, Breithaupt M, Varges D, Meissner B, Ladogana A, Schuur M, Haik S, Collins SJ, Jansen GH, Stokin GB, Pimentel J, Hewer E, Collie D, Smith P, Roberts H, Brandel JP, van Duijn C, Pocchiari M, Begue C, Cras P, Will RG, Sanchez-Juan P. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease[J]. Brain, 2009, 132(Pt 10):2659-2668.
[7] Green AJE. RT-QuIC:a new test for sporadic CJD[J]. Pract Neurol, 2019, 19:49-55.
[8] Groveman BR, Orrú CD, Hughson AG, Bongianni M, Fiorini M, Imperiale D, Ladogana A, Pocchiari M, Zanusso G, Caughey B. Extended and direct evaluation of RT-QuIC assays for Creutzfeldt-Jakob disease diagnosis[J]. Ann Clin Transl Neurol, 2016, 4:139-144.
[9] Foutz A, Appleby BS, 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 LB, Cohen ML, Caughey B, Safar JG. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid[J]. Ann Neurol, 2017, 81:79-92.
[10] 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, Capellari S, Parchi P. 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[J]. Acta Neuropathol, 2017, 133:559-578.
[11] Fiorini M, Iselle G, Perra D, Bongianni M, Capaldi S, Sacchetto L, Ferrari S, Mombello A, Vascellari S, Testi S, Monaco S, Zanusso G. High diagnostic accuracy of RT-QuIC assay in a prospective study of patients with suspected sCJD[J]. Int J Mol Sci, 2020, 21:880.
[12] Shir D, Lazar EB, Graff-Radford J, Aksamit AJ, Cutsforth-Gregory JK, Jones DT, Botha H, Ramanan VK, Prusinski C, Porter A, Day GS. Analysis of clinical features, diagnostic tests, and biomarkers in patients with suspected Creutzfeldt-Jakob disease, 2014-2021[J]. JAMA Netw Open, 2022, 5:e2225098.
[13] Watson N, Hermann P, Ladogana A, Denouel A, Baiardi S, Colaizzo E, Giaccone G, Glatzel M, Green AJE, Haïk S, Imperiale D, MacKenzie J, Moda F, Smith C, Summers D, Tiple D, Vaianella L, Zanusso G, Pocchiari M, Zerr I, Parchi P, Brandel JP, Pal S. Validation of revised international Creutzfeldt-Jakob disease surveillance network diagnostic criteria for sporadic Creutzfeldt-Jakob disease[J]. JAMA Netw Open, 2022, 5:e2146319.
[14] Hermann P, Schmitz M, Cramm M, Goebel S, Bunck T, Schütte-Schmidt J, Schulz-Schaeffer W, Stadelmann C, Matschke J, Glatzel M, Zerr I. Application of real-time quaking-induced conversion in Creutzfeldt-Jakob disease surveillance[J]. J Neurol, 2023, 270:2149-2161.
[15] Orrú CD, Yuan J, Appleby BS, Li B, Li Y, Winner D, Wang Z, Zhan YA, Rodgers M, Rarick J, Wyza RE, Joshi T, Wang GX, Cohen ML, Zhang S, Groveman BR, Petersen RB, Ironside JW, Quiñones-Mateu ME, Safar JG, Kong Q, Caughey B, Zou WQ. Prion seeding activity and infectivity in skin samples from patients with sporadic Creutzfeldt-Jakob disease[J]. Sci Transl Med, 2017, 9:eaam7785.
[16] Xiao K, Yang X, Zhou W, Chen C, Shi Q, Dong X. Validation and application of skin RT-QuIC to patients in China with probable CJD[J]. Pathogens, 2021, 10:1642.
[17] Orrú CD, Bongianni M, Tonoli G, Ferrari S, Hughson AG, Groveman BR, Fiorini M, Pocchiari M, Monaco S, Caughey B, Zanusso G. A test for Creutzfeldt-Jakob disease using nasal brushings[J]. N Engl J Med, 2014, 371:519-529.
[18] Bongianni M, Orrù C, Groveman BR, 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, Marchioni D, Hughson AG, Imperiale D, Cattaruzza T, Fabrizi GM, Pocchiari M, Monaco S, Caughey B, Zanusso G. Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples[J]. JAMA Neurol, 2017, 74:155-162.
[19] Jones SM, Lazar EB, Porter AL, Prusinski CC, Brier MR, Bucelli RC, Day GS. Real-time quaking-induced conversion assays for prions:applying a sensitive but imperfect test in clinical practice[J]. Eur J Neurol, 2023.[Epub ahead of print]
[20] Centers for Disease Control and Prevention, National Center for Emerging and Zoonotic Infectious Diseases (NCEZID), Division of High Consequence Pathogens and Pathology (DHCPP). CDC's diagnostic criteria for Creutzfeldt Jakob disease (CJD), 2018[DB/OL]. 2018(2018-08-15)[2023-04-10]. https://www. cdc.gov/prions/cjd/diagnostic criteria.html.
[21] Hermann P, Appleby B, Brandel JP, Caughey B, Collins S, Geschwind MD, Green A, Haïk S, Kovacs GG, Ladogana A, Llorens F, Mead S, Nishida N, Pal S, Parchi P, Pocchiari M, Satoh K, Zanusso G, Zerr I. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease[J]. Lancet Neurol, 2021, 20:235-246.

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