PDF(Pubmed)
Abstract：
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder caused by prion proteins. In about 85% of patients, CJD occurs as a sporadic disease with no recognizable pattern of transmission. Sporadic CJD (sCJD) can present with rapid cognitive and functional decline, memory deficits, myoclonus, pyramidal and extrapyramidal signs, and visual deficits. The large spectrum of phenotypic variability has made the recognition of prion diseases difficult, and given the rare incidence, it is not uncommon for it to be missed as a potential diagnosis. We present a highly unusual case of a 76-year-old woman with rapidly progressive sCJD who died within five weeks of presentation. Our case demonstrates a typical sequence of symptoms, with rapidly progressive dementia and cerebellar signs at disease onset and myoclonus later in the disease course.
摘要：
克雅氏病(CJD)是一种快速进展的疾病,由朊病毒蛋白引起的致命神经退行性疾病。在大约85%的患者中，CJD是一种散发性疾病，没有可识别的传播方式。散发性CJD（sCJD）可以表现为快速的认知和功能下降，记忆缺陷,肌阵鸣,锥体和锥体束外的迹象，和视觉缺陷。表型变异的大范围使得人们难以识别朊病毒病，鉴于罕见的发病率，将其作为潜在诊断漏诊并不少见.我们提出了一个非常不寻常的病例，即一名76岁的女性患有快速进展的sCJD，她在出现后的五周内死亡。我们的病例表现出一系列典型的症状,在疾病发作时具有快速进行性痴呆和小脑征象，在疾病过程后期具有肌阵挛性。
