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

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...

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Bibliographic Details
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
Description
Summary: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.

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