Diagnostic accuracy of prion disease biomarkers in iatrogenic creutzfeldt-jakob disease

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number290
JournalBiomolecules
Volume10
Issue number2
DOIs
Publication statusPublished - Feb 2020

Keywords

  • Biomarker
  • Cerebrospinal fluid
  • Corneal transplant
  • Dura matter graft
  • Electroencephalogram
  • Growth hormone
  • Iatrogenic Creutzfeldt-Jakob disease
  • Magnetic resonance imaging
  • RT-QuIC

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology

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