Journal Article DZNE-2026-01136

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Value of positive RT-QuIC replicate number in sporadic Creutzfeldt-Jakob disease.

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2026
BMJ Publishing Group London

BMJ neurology open 8(2), e001863 () [10.1136/bmjno-2026-001863]

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Abstract: Real-time quaking-induced conversion (RT-QuIC) of recombinant prion protein is a biomarker for Creutzfeldt-Jakob disease (CJD). RT-QuIC assesses a sample's seeding activity across multiple wells. We aim to model the test within a binomial framework and describe possible applications.This is a single-centre retrospective observational study. CJD and non-CJD cases with cerebrospinal fluid RT-QuIC were enrolled (2014-2018). The probability of a positive event in one well (θ+) for each group was assessed. θ+ can be used to calculate the posterior probability of disease (P_post) or as input parameters for computer simulations.Data from 584 sporadic CJD (sCJD) and 226 non-CJD cases were used. Respectively, θ+ was 0.841 (95% CI 0.823 to 0.857) and 0.025 (95% CI 0.016 to 0.040). The distribution of RT-QuIC results did not differ between all sCJD samples and definite sCJD cases and across groups with different alleles at codon 129 of the PRNP gene. P_post was calculated for each result. The distribution of results did not differ significantly across years in def/prob-sCJD and non-CJD.RT-QuIC results distribution and θ+ may be used for intra-laboratory quality control and P_post determination. Future studies should explore the utility of θ+ to increase diagnostic accuracy and inter-laboratory comparison.

Keyword(s): CREUTZFELDT-JAKOB DISEASE ; CSF ; PRION

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Contributing Institute(s):
  1. Translational Studies and Biomarker (AG Zerr)
Research Program(s):
  1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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Medline ; DOAJ ; Article Processing Charges ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Emerging Sources Citation Index ; Fees ; IF < 5 ; JCR ; PubMed Central ; SCOPUS ; Web of Science Core Collection
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 Record created 2026-11-04, last modified 2026-11-04


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