Neurológia pre prax 1/2024

Human prion diseases – state of the art 2023

Human prion diseases are a distinct group of fatal neurodegenerative diseases. Creutzfeldt-Jakob disease (CJD), a prototype of rapidly developing dementia, is the main representative. The article deals with the clinical and genetic correlates of CJD with an emphasis placed on the identification of genetic forms, including genetic counselling. In the case of acquired prion diseases, an interesting fact is the cessation of occurrence of kuru and variant CJD when targeted epidemiological measures have resulted in disrupting the transmission pattern of the pathological prion protein (PrPSc). As far as rare genetic prion diseases are concerned, the rarely diagnosed Gerstmann-Sträussler-Scheinker disease (GSS) as well as the unique fatal familial insomnia are discussed (FFI). The aim of the paper is to provide current information on human prion diseases.

Keywords: prion diseases, Creutzfeldt-Jakob disease, kuru, Gerstmann-Sträussler-Scheinker disease, fatal insomnia