Prion diseases: current understanding of pathogenesis, diagnosis, and treatment (narrative review)

Prion diseases (PD) represent a group of rare yet fatal neurodegenerative disorders caused by the conformational transformation of the cellular prion protein into its pathological isoform. Despite their low incidence, these diseases remain a significant medical and social challenge due to the lack of effective treatments and the risk of iatrogenic transmission. Purpose of the review was to identify key unresolved issues in PD research, including molecular mechanisms of pathogenesis, opportunities for early diagnosis, and promising therapeutic approaches, as well as to outline the most critical directions for future studies. A systematic literature search was conducted in PubMed, Google Scholar, eLibrary, and CyberLeninka databases for the period 2016–2025. Fifty-one relevant publications were selected, comprising original studies, reviews, and clinical cases. The analysis was performed in accordance with CINAR guidelines and SANRA criteria. Modern diagnostic techniques (RT-QuIC, DWI-MRI) have significantly improved the detection of PD, though their widespread implementation is hindered by high costs and the need for specialized expertise. The most promising therapeutic strategies include monoclonal antibodies (PRN100), antisense oligonucleotides, and CRISPR/Cas9 technology. Epidemiological data confirm a decline in variant Creutzfeldt – Jakob disease (vCJD) cases due to enhanced biosafety measures, though risks associated with prolonged incubation periods persist. To enhance the diagnosis and treatment of PD, it is essential to establish a national registry, expand laboratory networks, train specialists, and strengthen biosafety protocols. Future research should focus on combined therapeutic strategies and in-depth exploration of the molecular mechanisms underlying these disorders.