TY - JOUR
T1 - Diagnostic accuracy of prion disease biomarkers in iatrogenic creutzfeldt-jakob disease
AU - Llorens, Franc
AU - Villar-piqué, Anna
AU - Hermann, Peter
AU - Schmitz, Matthias
AU - Calero, Olga
AU - Stehmann, Christiane
AU - Sarros, Shannon
AU - Moda, Fabio
AU - Ferrer, Isidre
AU - Poleggi, Anna
AU - Pocchiari, Maurizio
AU - Catania, Marcella
AU - Klotz, Sigrid
AU - O’regan, Carl
AU - Brett, Francesca
AU - Heffernan, Josephine
AU - Ladogana, Anna
AU - Collins, Steven J.
AU - Calero, Miguel
AU - Kovacs, Gabor G.
AU - Zerr, Inga
N1 - Funding Information:
Funding: This research was funded by the Instituto Carlos III (grants CP/00041 and PI19/00144) and by the Fundació La Marató de TV3 (201821‐30‐31‐32) to FL and by the Robert Koch Institute through funds from the Federal Ministry of Health (grant No, 1369‐341) to IZ. This project was also funded at 65% by the Fondo Europeo de Desarrollo Regional (FEDER) through the Interreg V‐A España‐Francia‐Andorra (POCTEFA 2014‐2020) programme. SJC is funded in part by a NHMRC Practitioner Fellowship (identification #APP1105784).
Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/2
Y1 - 2020/2
N2 - 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.
AB - 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.
KW - Biomarker
KW - Cerebrospinal fluid
KW - Corneal transplant
KW - Dura matter graft
KW - Electroencephalogram
KW - Growth hormone
KW - Iatrogenic Creutzfeldt-Jakob disease
KW - Magnetic resonance imaging
KW - RT-QuIC
UR - http://www.scopus.com/inward/record.url?scp=85079558347&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85079558347&partnerID=8YFLogxK
U2 - 10.3390/biom10020290
DO - 10.3390/biom10020290
M3 - Article
C2 - 32059611
AN - SCOPUS:85079558347
VL - 10
JO - Biomolecules
JF - Biomolecules
SN - 2218-273X
IS - 2
M1 - 290
ER -