Role of Biomarkers for the Diagnosis of Prion Diseases : A Narrative Review
Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau)
Ruiz Barrio, Iñigo (Institut d'Investigació Biomèdica Sant Pau)
Zelaya, Maria Victoria (Hospital Universitario de Navarra)
Mendioroz, Maite (Instituto de Investigación Sanitaria de Navarra)
Universitat Autònoma de Barcelona

Date:	2022
Abstract:	Prion diseases are progressive and irreversible neurodegenerative disorders with a low incidence (1. 5-2 cases per million per year). Genetic (10-15%), acquired (anecdotal) and sporadic (85%) forms of the disease have been described. The clinical spectrum of prion diseases is very varied, although the most common symptoms are rapidly progressive dementia, cerebellar ataxia and myoclonus. Mean life expectancy from the onset of symptoms is 6 months. There are currently diagnostic criteria based on clinical phenotype, as well as neuroimaging biomarkers (magnetic resonance imaging), neurophysiological tests (electroencephalogram and polysomnogram), and cerebrospinal fluid biomarkers (14-3-3 protein and real-time quaking-induced conversion (RT-QuIC)). The sensitivity and specificity of some of these tests (electroencephalogram and 14-3-3 protein) is under debate and the applicability of other tests, such as RT-QuIC, is not universal. However, the usefulness of these biomarkers beyond the most frequent prion disease, sporadic Creutzfeldt-Jakob disease, remains unclear. Therefore, research is being carried out on new, more efficient cerebrospinal fluid biomarkers (total tau, ratio total tau/phosphorylated tau and neurofilament light chain) and potential blood biomarkers (neurofilament light chain, among others) to try to universalize access to early diagnosis in the case of prion diseases.
Grants:	Instituto de Salud Carlos III CM19/00066
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article de revisió ; recerca ; Versió publicada
Subject:	Prion disease ; Biomarkers ; Diagnosis ; Dementia ; Neurodegeneration
Published in:	Medicina, Vol. 58 Núm. 4 (april 2022) , p. 473, ISSN 1648-9144

DOI: 10.3390/medicina58040473
PMID: 35454316

19 p, 2.3 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
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