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Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease

by Hermann, Peter , Pal, Suvankar , Geschwind, Michael D , Zerr, Inga , Kovacs, Gabor G , Collins, Steven , Haïk, Stephane , Caughey, Byron , Llorens, Franc , Mead, Simon , Pocchiari, Maurizio , Satoh, Katsuya , Zanusso, Gianluigi , Nishida, Noriyuki , Appleby, Brian , Brandel, Jean-Philippe , Ladogana, Anna , Green, Alison , Parchi, Piero

in 14-3-3 protein / Accuracy / Biomarkers / Biomarkers - analysis / Biopsy / Bovine spongiform encephalopathy / Cerebrospinal fluid / Clinical medicine / Creutzfeldt-Jakob disease / Creutzfeldt-Jakob Syndrome - diagnosis / Creutzfeldt-Jakob Syndrome - diagnostic imaging / Creutzfeldt-Jakob Syndrome - genetics / Dementia / Diagnosis / Diagnostic tests / EEG / Encephalitis / Genetic Markers / Guidelines as Topic / Humans / Magnetic resonance imaging / Medical diagnosis / Neurodegenerative diseases / Neuroimaging / Neuropathology / Polymorphism / Protein interaction / Protein seeding / Proteins / Sensitivity and Specificity / Surveillance / Tau protein

2021

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2021

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2021

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Journal Article

Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease

Hermann, Peter,

Pal, Suvankar,

Geschwind, Michael D,

Zerr, Inga,

Kovacs, Gabor G,

Collins, Steven,

Haïk, Stephane,

Caughey, Byron,

Llorens, Franc,

Mead, Simon,

Pocchiari, Maurizio,

Satoh, Katsuya,

Zanusso, Gianluigi,

Nishida, Noriyuki,

Appleby, Brian,

Brandel, Jean-Philippe,

Ladogana, Anna,

Green, Alison,

Parchi, Piero

2021

Overview

Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrPSc). 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 PrPSc seeding activity in different tissues, and trial monitoring. Moreover, emerging blood-based, prognostic, and potentially pre-symptomatic biomarker candidates are under investigation.

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Publisher

Elsevier Ltd,Elsevier Limited

Subject

14-3-3 protein

/ Accuracy

/ Biomarkers

/ Biomarkers - analysis

/ Biopsy

/ Bovine spongiform encephalopathy

/ Cerebrospinal fluid