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

Abstract

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.

Keywords

• prions
• prion proteins
• prion diseases
• creutzfeldt-jakob syndrome
• dementia
• biomarkers
• cerebrospinal fluid