Cosacov Rolando M, Taratuto Ana Lia, Ghiraridi Graciela, Barrionuevo Pilar, Diaz Anatilde, Begué Christian, Martinetto Horacio
Hospital Misericordia, Cba, Argentina.
Rev Fac Cien Med Univ Nac Cordoba. 2004;61(1):48-53.
Creutzfeldt Jakob disease (CJD) has the highest incidence of the whole group of transmissible spongiform encephalopathies or prion diseases, which have the unique feature among all pathologies, to be able to appear as infectious/iatrogenic, sporadic or hereditary, being common to all, the deposition of an abnormal prion protein (PrPSc,CJres) in the central nervous system. More than 20 mutations of the gene (PRNP) that encodes the prion protein have been described. We here report a case of CJD(E200K) refered as probable 'sporadic' according to WHO.
clinical, pathologic, and molecular features of the disease were characterized using EEG, neuropathology, prionprotein (PrP) Western blot and gene (PRNP) analysis.
The patient developed visual hallucinations, myoclonus, memory loss, tremor, disbasia and generalized convulsives seizures dying six months after onset. On neuropathologic examination, spongiform changes were observed and PrP immunopositivity detected. Western blot analysis showed the presence of proteinaseK (PK)-resistant PrP (PrPres) with the nonglycosylatedisoform of approximately 21 kd, and DNA restriction fragment length polymorphism (RFLP) analysis showed the E200K mutation.
The PRNP(E200K) mutation is the most frequent cause of the hereditary-familial CJD (fCJD). Clusters of this variety have been described in Chileans, Slovaks from Orava, Jews Israelies of Libyan origin, and Japanese. There was no available data of affected relatives of the patient which have suggested he was fCJD, but due to his Chilean origin PRNP studies were carried out. In fact the clinical and pathology of this familial form, with remarkable exceptions, resembles sporadic cases but has a greater incidence, in these groups than sporadic in the general population.
This patient, although clinically reported as probable 'sporadic', after molecular characterization resulted a CJD(E200K) probably belonging to the Chilean cluster.
克雅氏病（CJD）在所有可传播性海绵状脑病或朊病毒病中发病率最高，这些疾病在所有病理学中具有独特特征，能够表现为传染性/医源性、散发性或遗传性，其共同特征是在中枢神经系统中沉积异常朊病毒蛋白（PrPSc，克雅氏病相关蛋白）。已描述了编码朊病毒蛋白的基因（PRNP）的20多种突变。我们在此报告一例根据世界卫生组织归类为可能“散发性”的CJD（E200K）病例。
使用脑电图、神经病理学、朊病毒蛋白（PrP）免疫印迹和基因（PRNP）分析对该疾病的临床、病理和分子特征进行表征。
患者出现视幻觉、肌阵挛、记忆力减退、震颤、共济失调和全身性惊厥发作，发病6个月后死亡。神经病理学检查发现海绵状改变并检测到PrP免疫阳性。免疫印迹分析显示存在蛋白酶K（PK）抗性PrP（PrPres），其非糖基化异构体约为21kd，DNA限制性片段长度多态性（RFLP）分析显示E200K突变。
PRNP（E200K）突变是遗传性家族性CJD（fCJD）最常见的病因。在智利人、来自奥拉瓦的斯洛伐克人、利比亚裔以色列犹太人以及日本人中都描述过这种类型的聚集病例。没有该患者受影响亲属的可用数据表明他是fCJD，但由于他的智利血统，对其进行了PRNP研究。实际上，这种家族形式的临床和病理学，除了显著的例外情况外，与散发性病例相似，但在这些群体中的发病率高于一般人群中的散发性病例。
该患者虽然临床报告为可能“散发性”，但经过分子表征后结果为可能属于智利聚集病例的CJD（E200K）。
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