Abstract
Human prion disorders (transmissible spongiform encephalopathies, TSEs) are unique, progressive, and fatal neurodegenerative diseases caused by aggregation of misfolded prion protein in neuronal tissue. Due to the potential transmission, human TSEs are under active surveillance in a majority of countries; in the Czech Republic data are centralized at the National surveillance center (NRL) which has a clinical and a neuropathological subdivision. The aim of our article is to review current knowledge about human TSEs and summarize the experience of active surveillance of human prion diseases in the Czech Republic during the last 20 years. Possible or probable TSEs undergo a mandatory autopsy using a standardized protocol. From 2001 to 2020, 305 cases of sporadic and genetic TSEs including 8 rare cases of Gerstmann–Sträussler–Scheinker syndrome (GSS) were confirmed. Additionally, in the Czech Republic, brain samples from all corneal donors have been tested by the NRL immunology laboratory to increase the safety of corneal transplants since January 2007. All tested 6590 corneal donor brain tissue samples were negative for prion protein deposits. Moreover, the routine use of diagnostic criteria including biomarkers are robust enough, and not even the COVID-19 pandemic has negatively impacted TSEs surveillance in the Czech Republic.
Highlights
Human Prion Diseases in ReviewPrion diseases are transmissible, progressive, and fatal neurodegenerative disorders associated with the aggregation of a misfolded prion protein (PrP) [1]
The P102L mutation was found in eight cases, and no clinically specific symptoms for this mutation were observed, we described a case mimicking gCJD [121]
Epidemiological surveillance of prion diseases in the Czech Republic is at a level comparable to other developed countries, and at the top with regard to systematic screening for PrPSc in the brain tissue of all corneal donors; the Transplantation Act, which mandates this screening, is unique in the world
Summary
Progressive, and fatal neurodegenerative disorders associated with the aggregation of a misfolded prion protein (PrP) [1]. The cellular prion protein (PrPC) functions as a glycolipid-anchored cell membrane sialoglycoprotein localized in presynaptic membranes that has neuroprotective [3] and pro-myelinating [4] roles. It participates in neurotransmission, zinc and copper transport, and calcium homeostasis [5,6,7]. The last case that is under investigation appeared in 2021, when CJD was diagnosed in a retired French laboratory worker which led to 3-month moratorium on the study of prions in France [27]
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