Diagnostic Accuracy of Prion Disease Biomarkers in Iatrogenic Creutzfeldt-Jakob Disease.

Maurizio Pocchiari, Inga Zerr, Gabor G Kovacs, Miguel Calero, Steven J Collins, Anna Ladogana, Josephine Heffernan, Francesca Brett, Carl O'Regan, Sigrid Klotz, Marcella Catania, Franc Llorens, Anna Poleggi, Isidre Ferrer, Fabio Moda, Shannon Sarros, Christiane Stehmann, Olga Calero, Matthias Schmitz, Peter Hermann, Anna Villar-Piqué

Journal: Biomolecules 2021;10(2):290

PMID: 32059611

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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.

Address: Department of Neurology, National Reference Center for CJD Surveillance, University Medical Centre Göttingen, 37075 Göttingen, Germany.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), L'Hospitalet de Llobregat, 08908 Llobregat, Spain.; Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908 Llobregat, Spain.; German Center for Neurodegenerative Diseases (DZNE), Göttingen 37075, Germany.; Chronic Disease Programme (UFIEC)-CROSADIS, Instituto de Salud Carlos III, 28029 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Australian National Creutzfeldt-Jakob Disease Registry, Florey Institute, The University of Melbourne, Melbourne 3010, Australia.; Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Neurology 5 and Neuropathology, 20133 Milan, Italy.; Department of Pathology and Experimental Therapeutics, University of Barcelona, L'Hospitalet de Llobregat, 08907 Llobregat, Spain.; Department of Neuroscience, Istituto Superiore di Sanità, 00161 Rome, Italy.; Institute of Neurology, Medical University of Vienna, Vienna 1097, Austria.; Department of Neuropathology, Beaumont Hospital, Dublin 9, Ireland.; Department of Medicine (RMH), The University of Melbourne, Melbourne 3050, Australia.; Department of Laboratory Medicine and Pathobiology and Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto On, M5T 0S8, Canada.; Laboratory Medicine Program, University Health Network, Toronto ON, M5G 2C4, Canada.

DOI: 10.3390/biom10020290

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MeSH Terms: Adult, Aged, Biomarkers, Corneal Transplantation, Creutzfeldt-Jakob Syndrome, Dura Mater, Electroencephalography, Encephalopathy, Bovine Spongiform, Female, Homozygote, Human Growth Hormone, Humans, Iatrogenic Disease, Kaplan-Meier Estimate, Magnetic Resonance Imaging, Male, Methionine, Middle Aged, Neuroimaging, Phenotype, Polymorphism, Genetic, Prion Diseases, Prion Proteins, Registries, Reproducibility of Results, Sex Factors, Time Factors