Prion protein aggregation assays in the diagnosis of human prion diseases

Abstract

ABSTRACT  Sporadic Creutzfeldt–Jakob disease (sCJD) is the most common form of human prion disease and is associated with a progressive cognitive decline and death usually occurs within 6 months. Neuropathologically these diseases are characterized by the deposition of an abnormal form (PrPSc) of a normally expressed protein PrPC. At present there are no disease-specific diagnostic tests for prion diseases. Therefore, a test that will enable accurate and earlier diagnosis is needed. The ability of PrPSc to convert native PrPC into PrPSc has been exploited in a variety of protein aggregation assays such as protein misfolding cyclic amplification (PMCA), and real-time QuIC (RT-QuIC). Cerebrospinal fluid RT-QuIC is rapidly growing in acceptance as a reliable and accurate diagnostic test for sCJD.