Hermann, P;
Appleby, B;
Brandel, J-P;
Caughey, B;
Collins, S;
Geschwind, MD;
Green, A;
... Zerr, I; + view all
(2021)
Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.
The Lancet Neurology
, 20
(3)
pp. 235-246.
10.1016/S1474-4422(20)30477-4.
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Abstract
Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrP^{Sc}). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, could aid the diagnostic process. However, discordant studies have led to controversies about the clinical value of some established surrogate biomarkers. Development and clinical application of disease-specific protein aggregation and amplification assays, such as real-time quaking induced conversion (RT-QuIC), have constituted major breakthroughs for the confident pre-mortem diagnosis of sporadic Creutzfeldt-Jakob disease. Updated criteria for the diagnosis of sporadic Creutzfeldt-Jakob disease, including application of RT-QuIC, should improve early clinical confirmation, surveillance, assessment of PrP^{Sc} seeding activity in different tissues, and trial monitoring. Moreover, emerging blood-based, prognostic, and potentially pre-symptomatic biomarker candidates are under investigation.
| Type: | Article |
|---|---|
| Title: | Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/S1474-4422(20)30477-4 |
| Publisher version: | https://doi.org/10.1016/S1474-4422(20)30477-4 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| Keywords: | Biomarkers, Creutzfeldt-Jakob Syndrome, Genetic Markers, Guidelines as Topic, Humans, Neuroimaging, Sensitivity and Specificity |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases > MRC Prion Unit at UCL |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10123547 |
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