Journal Article

DZNE-2020-01055

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Diagnostic Accuracy of Prion Disease Biomarkers in Iatrogenic Creutzfeldt-Jakob Disease

Llorens, F. (Corresponding author) ; Villar-Piqué, A. (Corresponding author) ; Hermann, P. ; Schmitz, M.DZNE* ; Calero, O. ; Stehmann, C. ; Sarros, S. ; Moda, F. ; Ferrer, I. ; Poleggi, A. ; Pocchiari, M. ; Catania, M. ; Klotz, S. ; O’Regan, C. ; Brett, F. ; Heffernan, J. ; Ladogana, A. ; Collins, S. J. ; Calero, M. ; Kovacs, G. G. ; Zerr, I. (Last author)DZNE*

2020
MDPI Basel

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Please use a persistent id in citations: doi:10.3390/biom10020290

Abstract: Human prion diseases are classified into sporadic, genetic, and acquired forms. Within this last group, iatrogenic Creutzfeldt–Jakob disease (iCJD) is caused by human-to-human transmission through surgical and medical procedures. After reaching an incidence peak in the 1990s, it is believed that the iCJD historical period is probably coming to an end, thanks to lessons learnt from past infection sources that promoted new prion prevention and decontamination protocols. At this point, we sought to characterise the biomarker profile of iCJD and compare it to that of sporadic CJD (sCJD) for determining the value of available diagnostic tools in promptly recognising iCJD cases. To that end, we collected 23 iCJD samples from seven national CJD surveillance centres and analysed the electroencephalogram and neuroimaging data together with a panel of seven CSF biomarkers: 14-3-3, total tau, phosphorylated/total tau ratio, alpha-synuclein, neurofilament light, YKL-40, and real-time quaking induced conversion of prion protein. Using the cut-off values established for sCJD, we found the sensitivities of these biomarkers for iCJD to be similar to those described for sCJD. Given the limited relevant information on this issue to date, the present study validates the use of current sCJD biomarkers for the diagnosis of future iCJD cases.

Keyword(s): Adult (MeSH) ; Aged (MeSH) ; Biomarkers: cerebrospinal fluid (MeSH) ; Corneal Transplantation: adverse effects (MeSH) ; Creutzfeldt-Jakob Syndrome: cerebrospinal fluid (MeSH) ; Creutzfeldt-Jakob Syndrome: diagnostic imaging (MeSH) ; Creutzfeldt-Jakob Syndrome: epidemiology (MeSH) ; Dura Mater: transplantation (MeSH) ; Electroencephalography (MeSH) ; Encephalopathy, Bovine Spongiform: cerebrospinal fluid (MeSH) ; Encephalopathy, Bovine Spongiform: diagnostic imaging (MeSH) ; Encephalopathy, Bovine Spongiform: epidemiology (MeSH) ; Female (MeSH) ; Homozygote (MeSH) ; Human Growth Hormone: adverse effects (MeSH) ; Humans (MeSH) ; Iatrogenic Disease (MeSH) ; Kaplan-Meier Estimate (MeSH) ; Magnetic Resonance Imaging (MeSH) ; Male (MeSH) ; Methionine: genetics (MeSH) ; Middle Aged (MeSH) ; Neuroimaging (MeSH) ; Phenotype (MeSH) ; Polymorphism, Genetic (MeSH) ; Prion Diseases: cerebrospinal fluid (MeSH) ; Prion Diseases: diagnostic imaging (MeSH) ; Prion Proteins: metabolism (MeSH) ; Registries (MeSH) ; Reproducibility of Results (MeSH) ; Sex Factors (MeSH) ; Time Factors (MeSH)

Note: https://www.mdpi.com/2218-273X/10/2/290

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Contributing Institute(s):

1. Translational Studies and Biomarker (AG Zerr)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2020

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