Molecular diagnostic tools in Creutzfeldt-Jakob disease and other prion disorders.
Clinical criteria and cerebrospinal fluid biomarkers for the diagnosis of human prion diseases (sporadic, iatrogenic or variant Creutzfeldt-Jakob disease and genetic inherited transmissible spongiform encephalopathies) are now widely available and show a sensitivity and specificity of approximately 98%. Final diagnosis of prion diseases is obtained by post-mortem examination upon identification of the pathological conformer of the prion protein (PrPSc) in the brain. Several diagnostic kits are now available that facilitate the immunochemical measurement of PrPSc. Several new molecular diagnostic techniques, aimed at increasing the sensitivity and specificity of PrPSc detection and at identifying markers of disease other than PrPSc, are the subject of ongoing studies. The aim of these studies is to develop preclinical screening tests for the identification of infected but still healthy individuals. These tests are also essential to investigate the safety of blood or blood-derived products and to ensure meat safety in European countries.
Van Everbroeck
Bart
B
Laboratory of Neurobiology, Borne Bunge Foundation, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610 Antwerp, Belgium. bart.vaneverbroeck@ua.ac.be
Boons
Jef
J
De Leenheir
Evelyn
E
Lübke
Ursula
U
Cras
Patrick
P
D000818:Animals; D015415:Biomarkers; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D025202:Molecular Diagnostic Techniques; D018620:PrPSc Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D017096:Prion Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D011933:Reagent Kits, Diagnostic; D012680:Sensitivity and Specificity
D015415:Biomarkers; D018620:PrPSc Proteins; D011933:Reagent Kits, Diagnostic