Neurológia pre prax 1/2024

Progress in intravital laboratory diagnostics of prion diseases: highly sensitive and specific detection of prions in cerebrospinal fluid using RT-QuIC

Diagnostics of prion diseases is difficult due to their heterogeneity and overlap of clinical symptoms with other neurodegenerative disorders. Till now utilized diagnostics methods did not have sufficient sensitivity and specificity. In 2018 WHO diagnostic criteria were updated by the inclusion of RT-QuIC assay (Real Time Quacking Induced Conformation), which utilizes the ability of prions to aggregate native recombinant prion protein for their detection. The aggregation is monitored in real time using fluorescent probe. The assay is extremely sensitive and specific. Our results confirms that it allows detection of prions in cerebrospinal fluid of living patients shortly after the appearance of symptoms.

Keywords: Creutzfeldt‑Jakob disease, prions, differential diagnostics, neurodegenerative diseases, amyloid