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Revista de Medicina de Laboratorio 00125 / http://dx.doi.org/10.20960/revmedlab.00125

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Revisiones - Metaanálisis

Biomarcadores diagnósticos de la enfermedad de Creutzfeld-Jakob

Beatriz Nafría Jiménez, Adolfo Garrido Chércoles

Prepublicado: 2023-05-11

Publicado: 2023-05-11

VOLUMEN 4, NÚM. 1, enero-abril (2023), PAG. 12-23

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Introducción: las encefalopatías espongiformes transmisibles constituyen un grupo de enfermedades de baja incidencia caracterizadas por depósitos neuronales de proteína priónica mal plegada que cursan con una demencia de progresión rápida. Actualmente no existen terapias eficaces y su evolución es fatal. Los criterios diagnósticos incluyen una combinación de síntomas neurológicos, pruebas de neuroimagen y biomarcadores del líquido cefalorraquídeo (LCR). Sin embargo, existen algunas controversias sobre el valor clínico de estas pruebas y el diagnóstico definitivo sigue requiriendo la confirmación neuropatológica mediante biopsia cerebral. Objetivo: el objetivo de esta revisión es presentar una actualización de la utilidad clínica de los principales biomarcadores disponibles para el diagnóstico de la enfermedad de Creutzfeldt-Jakob (ECJ). Material y métodos: los últimos avances en las pruebas de diagnóstico han llevado a una detección cada vez más específica de la ECJ. En concreto, el ensayo de conversión inducida por temblor en tiempo real (RT-QuIC) presenta la misma sensibilidad con una mayor especificidad que los mejores biomarcadores sustitutos en LCR. Conclusión: la inclusión de RT-QuIC en los criterios diagnósticos de la ECJ, junto con las características clínicas y anomalías sugestivas en las investigaciones de apoyo, como el electroencefalograma, la resonancia y los biomarcadores en LCR, han constituido un importante avance para el estudio pre mortem y las nuevas estrategias terapéuticas.

Palabras Clave: Biomarcadores. Enfermedad de Creutzfeld-Jakob. Líquido cefalorraquídeo. Priones. RT-QuIC.

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Bibliografía
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