Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples

@article{Bongianni2017DiagnosisOH,
  title={Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples},
  author={M. Bongianni and C. Orr{\'u} and B. Groveman and L. Sacchetto and M. Fiorini and G. Tonoli and Giorgio Triva and S. Capaldi and S. Testi and S. Ferrari and A. Cagnin and A. Ladogana and A. Poleggi and Elisa Colaizzo and D. Tiple and Luana Vaianella and S. Castriciano and D. Marchioni and A. Hughson and D. Imperiale and T. Cattaruzza and G. Fabrizi and M. Pocchiari and S. Monaco and B. Caughey and G. Zanusso},
  journal={JAMA Neurology},
  year={2017},
  volume={74},
  pages={155–162}
}
Importance Early and accurate in vivo diagnosis of Creutzfeldt-Jakob disease (CJD) is necessary for quickly distinguishing treatable from untreatable rapidly progressive dementias and for future therapeutic trials. This early diagnosis is becoming possible using the real-time quaking-induced conversion (RT-QuIC) seeding assay, which detects minute amounts of the disease-specific pathologic prion protein in cerebrospinal fluid (CSF) or olfactory mucosa (OM) samples. Objective To develop an… Expand
High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions
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The results confirm the high sensitivity of IQ-CSF for detecting human prions with a sub-optimal sensitivity for the sporadic CJD subtypes MM2C and MM2T, and a low sensitivity limited to variant CJD, Gerstmann-Sträussler-Scheinker syndrome and fatal familial insomnia. Expand
High Diagnostic Accuracy of RT-QuIC Assay in a Prospective Study of Patients with Suspected sCJD
TLDR
Evidence is provided that the inclusion of an RT-QuIC assay of the CSF and OM in the diagnostic criteria for sCJD has radically changed the clinical approach towards the diagnosis and showed that CSF blood contamination or high protein levels might interfere with RT- QuIC seeding. Expand
Early and Pre-Clinical Detection of Prion Seeding Activity in Cerebrospinal Fluid of Goats using Real-Time Quaking-Induced Conversion Assay
TLDR
Improved QuIC improved QuIC (IQ-CSF) was applied for highly efficient detection of TSEs prion protein in goat cerebrospinal fluid and showed great potential as ante-mortem TSE test for live and asymptomatic small ruminants. Expand
Detection of Prions in Brain Homogenates and CSF Samples Using a Second-Generation RT-QuIC Assay: A Useful Tool for Retrospective Analysis of Archived Samples
TLDR
The reliability of archived brain homogenates and post-mortem CSF samples for retrospective analysis by RT-QuIC after long-term storage is proved, without changed reactivity. Expand
Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases
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It is demonstrated for the first time that BV rPrP is susceptible to conversion by human CSF samples containing certain prion strains not previously responsive in conventional rPrPs, thus justifying further optimisation for wider diagnostic and prognostic use. Expand
RT-QuIC Assays for Prion Disease Detection and Diagnostics.
TLDR
The current RT-QuIC methodologies as well as technical considerations in executing, troubleshooting, and adapting the assay to new strains of prions and sample types are described. Expand
A meta-analysis on RT-QuIC for the diagnosis of sporadic CJD.
TLDR
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, according to a meta-analysis. Expand
RT-QuIC: a new test for sporadic CJD
The diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) can be difficult, but the real-time quaking-induced conversion (RT-QuIC) assays have made a considerable impact on its clinical diagnosis.Expand
Amplification techniques and diagnosis of prion diseases.
TLDR
The sensitivity values of RT-QuIC for the diagnosis of sCJD are comparable or higher than those of the other tests (EEG, MRI, detection of 14-3-3 or tau proteins in cerebrospinal fluid) but with a specificity close to 100%. Expand
Detection of Pathognomonic Biomarker PrPSc and the Contribution of Cell Free-Amplification Techniques to the Diagnosis of Prion Diseases
TLDR
The solution comes from the recent development of in vitro prion propagation techniques, such as Protein Misfolding Cyclic Amplification and Real Time-Quaking Induced Conversion (RT-QuIC), which have been already applied to detect minute amounts of PrPSc in different matrixes and make early diagnosis of prion diseases feasible in a near future. Expand
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TLDR
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TLDR
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