Neurológia pre prax 1/2024

Human prion diseases in the Czech Republic: 22 years of experience of the National Reference Laboratory for the Diagnosis of Prion Diseases

Human prion diseases (TSEs) are a group of progressive fatal neurodegenerative diseases caused by aggregation of pathologically conformed prion protein in nervous tissue. Due to the risk of transmission, they are subject to active surveillance – in the Czech Republic, the data are centralized in the National Reference Laboratory for the Diagnosis of Prion Diseases (NRL) at the Institute of Pathology and Molecular Medicine of the Third Faculty of Medicine of Charles University and FTN. All cases of clinically possible or probable TSEs are subjected to a mandatory autopsy at the NRL according to a standardized protocol. Since the beginning of the NRL in 2001 to 2022, 361 cases of sporadic or genetic TSEs were confirmed in the Czech Republic, including 10 rare cases of Gerstmann-Sträussler-Scheinker syndrome (GSS). Since January 2007, the NRL has been running a globally unique project to test the brain tissue of all corneal donors to increase the safety of corneal transplants. All 7950 samples of corneal donor brain tissue examined were negative for the presence of deposits of pathologically conformed prion protein.

Keywords: human prion diseases, prionoses, TSE, PrP, Creutzfeldt‑Jakob disease, Gerstmann‑Sträussler‑Scheinker syndrome