Sant Pau Memory Unit, Hospital de la Santa Creu i Sant Pau-Biomedical Research Institute Sant Pau-Universitat Autònoma de Barcelona, 08041 Barcelona, Spain.
Centre of Biomedical Investigation Network for Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.
Medicina (Kaunas). 2022 Mar 25;58(4):473. doi: 10.3390/medicina58040473.
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.
朊病毒病是一种进行性和不可逆转的神经退行性疾病，发病率较低（每年每百万人口 1.5-2 例）。已描述了该病的遗传（10-15%）、获得性（偶发）和散发性（85%）形式。朊病毒病的临床谱非常多样化，尽管最常见的症状是迅速进展的痴呆、小脑共济失调和肌阵挛。从症状出现到平均预期寿命为 6 个月。目前有基于临床表型的诊断标准，以及神经影像学生物标志物（磁共振成像）、神经生理学测试（脑电图和多导睡眠图）和脑脊液生物标志物（14-3-3 蛋白和实时震颤诱导转换（RT-QuIC））。这些测试中的一些（脑电图和 14-3-3 蛋白）的敏感性和特异性存在争议，而其他测试（如 RT-QuIC）的适用性并不普遍。然而，这些生物标志物在最常见的朊病毒病——散发性克雅氏病之外的用途仍不清楚。因此，正在研究新的、更有效的脑脊液生物标志物（总 tau、总 tau/磷酸化 tau 比值和神经丝轻链）和潜在的血液生物标志物（神经丝轻链等），以尝试在朊病毒病的情况下普及早期诊断。
