{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T09:57:54Z","timestamp":1780480674791,"version":"3.54.1"},"reference-count":20,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,12,19]],"date-time":"2021-12-19T00:00:00Z","timestamp":1639872000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81630062"],"award-info":[{"award-number":["81630062"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"SKLID Development Grant","award":["2019SKLID501;2019SKLID603;2019SKLID307"],"award-info":[{"award-number":["2019SKLID501;2019SKLID603;2019SKLID307"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS109532;NS096626"],"award-info":[{"award-number":["NS109532;NS096626"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["5U51CK000309"],"award-info":[{"award-number":["5U51CK000309"]}],"id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pathogens"],"abstract":"<jats:p>The definite diagnosis of human sporadic Creutzfeldt\u2013Jakob disease (sCJD) largely depends on postmortem neuropathology and PrPSc detection in the brain. The development of real-time quaking-induced conversion (RT-QuIC) of cerebrospinal fluid (CSF) samples makes it possible for premortem diagnosis for sCJD. To test the diagnostic potential of RT-QuIC of skin specimens for probable sCJD, we collected the paired skin and CSF samples from 51 recruited living patients referred to the Chinese CJD surveillance center, including 34 probable sCJD, 14 non-CJD, and 3 genetic prion disease (gPrD). The samples were subjected to RT-QuIC assays using recombinant hamster PrP protein rHaPrP90-231 as the substrate. Using skin RT-QuIC assay, 91.2% (31\/34) probable sCJD patients, and 1 T188K genetic CJD (gCJD) cases showed positive prion-seeding activity, while 85.7% (12\/14) non-CJD patients were negative. CSF RT-QuIC positive seeding activity was only observed in 14 probable sCJD patients. Analysis of the reactivity of 38 positive skin RT-QuIC tests revealed that the positive rates in the preparations of 10\u22122, 10\u22123 and 10\u22124 diluted skin samples were 88.6% (39\/44), 63.6% (28\/44), and 25.0% (11\/44), respectively. Eleven probable sCJD patients donated two skin specimens collected at different sites simultaneously. Although 95.5% (21\/22) skin RT-QuIC elicited positive reaction, the reactivity varied. Our preliminary data indicate high sensitivity and specificity of skin RT-QuIC in prion detection for Chinese probable sCJD and highlight that skin prion-seeding activity is a reliable biomarker for premortem diagnosis of human prion disease.<\/jats:p>","DOI":"10.3390\/pathogens10121642","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T02:50:18Z","timestamp":1639968618000},"page":"1642","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Validation and Application of Skin RT-QuIC to Patients in China with Probable CJD"],"prefix":"10.3390","volume":"10","author":[{"given":"Kang","family":"Xiao","sequence":"first","affiliation":[{"name":"State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chang-Bai Rd 155, Beijing 102206, China"},{"name":"Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou 310007, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuehua","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chang-Bai Rd 155, Beijing 102206, China"},{"name":"Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou 310007, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhou","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chang-Bai Rd 155, Beijing 102206, China"},{"name":"Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou 310007, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cao","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chang-Bai Rd 155, Beijing 102206, China"},{"name":"Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou 310007, China"},{"name":"Center for Biosafety Mega-Science, Chinese Academy of Sciences, Wuhan 430071, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chang-Bai Rd 155, Beijing 102206, China"},{"name":"Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou 310007, China"},{"name":"China Academy of Chinese Medical Sciences, Dongzhimeinei, South Rd 16, Beijing 100700, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Dong","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chang-Bai Rd 155, Beijing 102206, China"},{"name":"Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou 310007, China"},{"name":"Center for Biosafety Mega-Science, Chinese Academy of Sciences, Wuhan 430071, China"},{"name":"China Academy of Chinese Medical Sciences, Dongzhimeinei, South Rd 16, Beijing 100700, China"},{"name":"Center for Global Public Health, Chinese Center for Disease Control and Prevention, Chang-Bai Rd 155, Beijing 102206, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/s40249-016-0143-8","article-title":"Epidemiological characteristics of human prion diseases","volume":"5","author":"Chen","year":"2016","journal-title":"Infect. 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