Resumen
Las enfermedades ocasionadas por priones son también conocidas como encefalitis espongiformes transmisibles o demencias de tipo infeccioso. En humanos las presentaciones clínicas más reconocidas son la enfermedad de Creutzfeldt-Jakob, el síndrome de Gerstmann-Sträussler-Scheinker y el insomnio fatal familiar. Son consideradas patologías poco comunes, pero los descubrimientos en biología molecular de los últimos años muestran que los mecanismos patológicos que llevan a su desarrollo pueden ser comunes a varias enfermedades neurodegenerativas, lo cual puede ampliar el espectro patológico, convirtiéndolas en alteraciones no tan infrecuentes en neurología.
Esta revisión pretende dar herramientas al clínico para reconocer estas enfermedades discutiendo las presentaciones clínicas en seres humanos con sus variantes: esporádicas, infecciosas y familiares, comentando además el uso de laboratorios, criterios diagnósticos y aproximación terapéutica.
Citas
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