Zivkovic S, Boada M, López O
Department of Neurology, University of Pittsburgh School of Medicine, Pennsylvania, USA.
Rev Neurol. 2000;31(12):1171-9.
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive dementia syndrome which is probably caused by prions. The annual incidence of this disease is 1/1,000,000. Most cases are sporadic in type, although 10-15% are familial. The total incidence of CJD has not changed following the epidemic due to a new variant (nv-CJD); however, this has led to greater awareness of the subject.
To review current scientific knowledge of CJD.
A search was made for relevant literature using MEDLINE. The criteria proposed for diagnosis of CJD include the presence of progressive dementia and at least two of the following characteristics: 1. Myoclonias, 2. Cortical blindness, 3. Pyramidal, extrapyramidal or cerebellar signs, 4. Akinetic mutism, or 5 Abnormal EEG. Laboratory and neuroimaging investigations may also help in diagnosis of CJD, although neuropathological confirmation is necessary for definite diagnosis. Two promising methods of pre mortem diagnosis of CJD are determination of 14-3-3 protein in the cerebrospinal fluid, in the case of sporadic CJD, and biopsy of the palatine tonsil in the case of nv-CJD. The physiopathology of CJD seems to be centred on the proteins forming prions, which are glycoproteins found in the plasmatic membrane and are very often expressed in the neurons, particularly at neuromuscular junctions and synapses. The pathological form resists proteolytic degradation, so that they accumulate in the CNS. The precise neurotoxic mechanism of these proteins is still not clear.
There is still no treatment for CJD. Further studies of the physiopathological mechanisms of prion diseases may help in the development of treatment to delay the progress of this disease.
克雅氏病（CJD）是一种可能由朊病毒引起的快速进展性痴呆综合征。该疾病的年发病率为1/1,000,000。大多数病例为散发性，尽管10 - 15%为家族性。新型变异型克雅氏病（nv - CJD）流行后，CJD的总发病率并未改变；然而，这提高了人们对该疾病的认识。
综述克雅氏病的当前科学知识。
使用MEDLINE搜索相关文献。克雅氏病诊断的提议标准包括进行性痴呆以及至少以下两个特征：1. 肌阵挛，2. 皮质盲，3. 锥体束、锥体外系或小脑体征，4. 运动不能性缄默，或5. 脑电图异常。实验室和神经影像学检查也可能有助于克雅氏病的诊断，尽管明确诊断需要神经病理学证实。两种有前景的克雅氏病生前诊断方法是：对于散发性克雅氏病，检测脑脊液中的14 - 3 - 3蛋白；对于nv - CJD，进行腭扁桃体活检。克雅氏病的生理病理学似乎集中在形成朊病毒的蛋白质上，这些蛋白质是糖蛋白，存在于质膜中，且常在神经元中表达，尤其是在神经肌肉接头和突触处。这种病理形式抵抗蛋白水解降解，因此它们在中枢神经系统中积累。这些蛋白质的确切神经毒性机制仍不清楚。
克雅氏病仍然无法治疗。对朊病毒疾病生理病理机制的进一步研究可能有助于开发延缓该疾病进展的治疗方法。
