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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| Format: | Article |
| Language: | English |
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MDPI AG
2022-03-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1648-9144/58/4/473 |
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| author | Miren Altuna Iñigo Ruiz María Victoria Zelaya Maite Mendioroz |
| author_facet | Miren Altuna Iñigo Ruiz María Victoria Zelaya Maite Mendioroz |
| author_sort | Miren Altuna |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T13:20:21Z |
| format | Article |
| id | doaj.art-563cf637f04a4d109d7cef8d37ebd632 |
| institution | Directory Open Access Journal |
| issn | 1010-660X 1648-9144 |
| language | English |
| last_indexed | 2024-03-09T13:20:21Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj.art-563cf637f04a4d109d7cef8d37ebd6322023-11-30T21:30:08ZengMDPI AGMedicina1010-660X1648-91442022-03-0158447310.3390/medicina58040473Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative ReviewMiren Altuna0Iñigo Ruiz1María Victoria Zelaya2Maite Mendioroz3Sant Pau Memory Unit, Hospital de la Santa Creu i Sant Pau—Biomedical Research Institute Sant Pau—Universitat Autònoma de Barcelona, 08041 Barcelona, SpainSant Pau Memory Unit, Hospital de la Santa Creu i Sant Pau—Biomedical Research Institute Sant Pau—Universitat Autònoma de Barcelona, 08041 Barcelona, SpainDepartment of Pathological Anatomy, Hospital Universitario de Navarra, 31008 Pamplona, SpainDepartment of Neurology, Hospital Universitario de Navarra, 31008 Pamplona, SpainPrion 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.https://www.mdpi.com/1648-9144/58/4/473prion diseasebiomarkersdiagnosisdementianeurodegeneration |
| spellingShingle | Miren Altuna Iñigo Ruiz María Victoria Zelaya Maite Mendioroz Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review Medicina prion disease biomarkers diagnosis dementia neurodegeneration |
| 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 | prion disease biomarkers diagnosis dementia neurodegeneration |
| url | https://www.mdpi.com/1648-9144/58/4/473 |
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