Determination of prion proteins in the diagnosis of Creutzfeldt-Jakob disease using RT-QuIC: A case report from northeastern Colombia

• Published in: Biomédica
• Main Authors: Jairo Lizarazo, Aixa Xiomara Vargas, Rafael Olarte, David Andrés Lizarazo
• Format: Article in Journal/Newspaper
• Language: English; Spanish
• Published: Instituto Nacional de Salud 2024
• Subjects: prions; prion proteins; prion diseases; creutzfeldt-jakob syndrome; dementia; biomarkers; cerebrospinal fluid; Medicine; R; Arctic medicine. Tropical medicine; RC955-962; Arctic
• Online Access: https://doi.org/10.7705/biomedica.7352; https://doaj.org/article/6eec8256a4c843639f1b3d887c3d7720

Creutzfeldt-Jakob disease is a rare neurodegenerative disease caused by prions. We present the case of a woman in the seventh decade of life with rapidly progressive dementia and myoclonus. Her brain magnetic resonance imaging revealed lesions in the basal nuclei, and the electroencephalogram showed periodic bilateral epileptiform discharges. In the cerebrospinal fluid, the prion protein was detected using the real-time quaking-induced conversion test (RT-QuIC), and elevated levels of tau and 14-3-3 proteins. We emphasize the significance of determining the prion protein in the definitive diagnosis of this disease.