Jurcau Maria Carolina, Jurcau Anamaria, Diaconu Razvan Gabriel, Hogea Vlad Octavian, Nunkoo Vharoon Sharma
Faculty of Medicine and Pharmacy, University of Oradea, 410087 Oradea, Romania.
Department of Psycho-Neurosciences and Rehabilitation, University of Oradea, 410087 Oradea, Romania.
Neurol Int. 2024 Sep 20;16(5):1039-1065. doi: 10.3390/neurolint16050079.
Creutzfeldt-Jakob disease is a rare neurodegenerative and invariably fatal disease with a fulminant course once the first clinical symptoms emerge. Its incidence appears to be rising, although the increasing figures may be related to the improved diagnostic tools. Due to the highly variable clinical picture at onset, many specialty physicians should be aware of this disease and refer the patient to a neurologist for complete evaluation. The diagnostic criteria have been changed based on the considerable progress made in research on the pathogenesis and on the identification of reliable biomarkers. Moreover, accumulated knowledge on pathogenesis led to the identification of a series of possible therapeutic targets, although, given the low incidence and very rapid course, the evaluation of safety and efficacy of these therapeutic strategies is challenging.
克雅氏病是一种罕见的神经退行性疾病,一旦出现首发临床症状,病情往往迅速发展且必然致命。其发病率似乎在上升,不过病例数的增加可能与诊断工具的改进有关。由于起病时临床表现高度多变,许多专科医生都应了解这种疾病,并将患者转诊给神经科医生进行全面评估。基于发病机制研究以及可靠生物标志物的识别取得的显著进展,诊断标准已发生变化。此外,尽管鉴于发病率低且病程极快,评估这些治疗策略的安全性和有效性具有挑战性,但对发病机制的累积认识已促成了一系列可能的治疗靶点的识别。