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Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review

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 th...

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Autores principales: Altuna, Miren, Ruiz, Iñigo, Zelaya, María Victoria, Mendioroz, Maite
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030755/
https://www.ncbi.nlm.nih.gov/pubmed/35454316
http://dx.doi.org/10.3390/medicina58040473
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author Altuna, Miren
Ruiz, Iñigo
Zelaya, María Victoria
Mendioroz, Maite
author_facet Altuna, Miren
Ruiz, Iñigo
Zelaya, María Victoria
Mendioroz, Maite
author_sort Altuna, Miren
collection PubMed
description 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.
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spelling pubmed-90307552022-04-23 Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review Altuna, Miren Ruiz, Iñigo Zelaya, María Victoria Mendioroz, Maite Medicina (Kaunas) Review 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. MDPI 2022-03-25 /pmc/articles/PMC9030755/ /pubmed/35454316 http://dx.doi.org/10.3390/medicina58040473 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Altuna, Miren
Ruiz, Iñigo
Zelaya, María Victoria
Mendioroz, Maite
Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review
title Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review
title_full Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review
title_fullStr Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review
title_full_unstemmed Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review
title_short Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review
title_sort role of biomarkers for the diagnosis of prion diseases: a narrative review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030755/
https://www.ncbi.nlm.nih.gov/pubmed/35454316
http://dx.doi.org/10.3390/medicina58040473
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