Human Prion Disease

AbstractHuman prion diseases (HPDs) are progressive and fatal neurodegenerative diseases caused by abnormal prion protein (PrPSc). They can be sporadic, genetic, or acquired. Sporadic HPDs include sporadic Creutzfeldt –Jakob disease (CJD) and sporadic fatal insomnia. Genetic HPDs include genetic CJD, Gerstman–Sträussler–Scheinker disease and fatal familial insomnia. Acquired HPDs include Kuru, variant CJD, and iatrogenic CJD. The World Health Organization clinical diagnostic criteria for HPDs include clini cal findings, cerebrospinal fluid (CSF) protein markers, and electroencephalography, and the UK and European clinical diagnostic criteria include a combination of clinical findings, 14-3-3 protein in the CSF, magnetic resonance imaging-diffusion-weighted imaging (MRI-DWI), and electroencephalography . Recently, the development and clinical application of real-time quaking-induced conversion (RT-QuIC) has allowed pre-mortem diagnosis of sporadic CJD. The RT-QuIC assay allows detection of>1 fg of PrPSc in diluted CJD brain homogenate as well as a variety of biological tissues and CSF. However, the RT-QuIC assay does not provide prognostic data and has lower diagnostic accuracy for some rarer, atypical prion diseases. Moreover, recent advancements in laboratory testing and MRI-DWI have shown improved diagnostic accuracy for prion diseases. Clinical trials of prion disease treatments have recently begun in many countries. The therapeutic window consists mainly of the ...
Source: Clinical and Experimental Neuroimmunology - Category: Neurology Authors: Tags: INVITED REVIEW Source Type: research