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Case Reports
. 2024 Nov 6;44(4):434-440.
doi: 10.7705/biomedica.7352.

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

[Article in English, Spanish]
Jairo Lizarazo  1 , Aixa Xiomara Vargas  1 , Rafael Olarte  2 , David Andrés Lizarazo  3
Affiliations
Case Reports

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

[Article in English, Spanish]
Jairo Lizarazo et al. Biomedica. .

Abstract
in English, Spanish, Spanish

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.

La enfermedad de Creutzfeldt-Jakob es una rara enfermedad neurodegenerativa causada por priones. Se presenta el caso de una mujer en la séptima década de la vida con demencia rápidamente progresiva y mioclonías. La resonancia magnética cerebral mostró lesiones en los núcleos basales y el electroencefalograma evidenció descargas epileptiformes periódicas bilaterales. En el líquido cefalorraquídeo, se detectó la proteína priónica mediante la prueba Real-Time Quaking Induced Conversion (RT-QuIC) y elevación de las proteínas tau y 14-3-3. Se enfatiza la importancia de identificar la proteína priónica en el diagnóstico definitivo de esta enfermedad.

La enfermedad de Creutzfeldt-Jakob es una rara enfermedad neurodegenerativa causada por priones.

Se presenta el caso de una mujer en la séptima década de la vida con demencia rápidamente progresiva y mioclonías. La resonancia magnética cerebral mostró lesiones en los núcleos basales y el electroencefalograma evidenció descargas epileptiformes periódicas bilaterales.

En el líquido cefalorraquídeo, se detectó la proteína priónica mediante la prueba Real-Time Quaking Induced Conversion (RT-QuIC) y elevación de las proteínas tau y 14-3-3. Se enfatiza la importancia de identificar la proteína priónica en el diagnóstico definitivo de esta enfermedad.

Keywords: prions; prion proteins; prion diseases; Creutzfeldt-Jakob syndrome; dementia; biomarkers; cerebrospinal fluid.

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Conflict of interest statement

Conflicts of interest: The authors have no actual or potential conflicts of interest to disclose.

Figures

Figure 1
Figure 1. Sporadic Creutzfeldt-Jakob disease. A. Axial non-enhanced head computed tomography image shows no abnormal findings. B. Axial fluid-attenuated inversion recovery magnetic resonance image displays bilateral symmetric high signal intensity of the caudate heads and putamina. C. Axial Apparent Diffusion Coefficient (ADC) map reveals abnormally low diffusion in these regions.
Figure 2
Figure 2. Electroencephalogram performed in patient’s awake state showing periodic, generalized, and synchronous sharp wave complexes.
See this image and copyright information in PMC

References

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