• Medicina clinica · Jun 2023

    Review

    Human prion diseases: An overview.

    • Raquel Piñar-Morales, Francisco Barrero-Hernández, and Luis Aliaga-Martínez.
    • Departamento de Medicina, Facultad de Medicina, Universidad de Granada, Granada, España; Servicio de Neurología, Hospital Clínico San Cecilio, Granada, España.
    • Med Clin (Barc). 2023 Jun 23; 160 (12): 554560554-560.

    AbstractPrion diseases are a group of neurodegenerative diseases. The disease-causing agent is a protein (PrP), that is normally produced in the nervous system, aggregated in an abnormal form. The abnormal protein, known as prion (PrPSc), is capable of self-propagation promoting the misfolding of the normal protein (PrP). These conditions can be acquired sporadically, genetically, or infectiously either by eating meat contaminated with prions or from iatrogenic exposure. The diagnosis of these diseases is often challenging. The use of highly sensitive and specific diagnostic tools, such as MRI and RT-QuIC, may aid in the diagnosis. Neuropathological examination of brain tissue ensures a definite diagnosis. At present, no treatment significantly improves the course of prion diseases; however, an early diagnosis is of paramount importance for patient care decision planning, infection control purposes, and genetic counseling.Copyright © 2023. Published by Elsevier España, S.L.U.

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