Budka H, Aguzzi A, Brown P, Brucher J M, Bugiani O, Gullotta F, Haltia M, Hauw J J, Ironside J W, Jellinger K
Institute of Neurology, University of Vienna, Wien, Austria.
Brain Pathol. 1995 Oct;5(4):459-66. doi: 10.1111/j.1750-3639.1995.tb00625.x.
Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human transmissible spongiform encephalopathies (prion diseases) are proposed for the following disease entities: CJD--sporadic, iatrogenic (recognised risk) or familial (same disease in 1st degree relative): spongiform encephalopathy in cerebral and/or cerebellar cortex and/or subcortical grey matter; or encephalopathy with prion protein (PrP) immunoreactivity (plaque and/or diffuse synaptic and/or patchy/perivacuolar types). Gerstmann-Sträussler-Scheinker disease (GSS) (in family with dominantly inherited progressive ataxia and/or dementia): encephalo(myelo)pathy with multicentric PrP plaques. Familial fatal insomnia (FFI) (in member of a family with PRNP178 mutation): thalamic degeneration, variable spongiform change in cerebrum. Kuru (in the Fore population). Without PrP data, the crucial feature is the spongiform change accompanied by neuronal loss and gliosis. This spongiform change is characterised by diffuse or focally clustered small round or oval vacuoles in the neuropil of the deep cortical layers, cerebellar cortex or subcortical grey matter, which might become confluent. Spongiform change should not be confused with non-specific spongiosis. This includes status spongiosus ("spongiform state"), comprising irregular cavities in gliotic neuropil following extensive neuronal loss (including also lesions of "burnt-out" CJD), "spongy" changes in brain oedema and metabolic encephalopathies, and artefacts such as superficial cortical, perineuronal, or perivascular vacuolation; focal changes indistinguishable from spongiform change may occur in some cases of Alzheimer's and diffuse Lewy body diseases. Very rare cases might not be diagnosed by these criteria. Then confirmation must be sought by additional techniques such as PrP immunoblotting, preparations for electron microscopic examination of scrapie associated fibrils (SAF), molecular biologic studies, or experimental transmission.
针对以下疾病实体，提出了克雅氏病（CJD）及其他人类传染性海绵状脑病（朊病毒病）的神经病理学诊断标准：散发性、医源性（已知风险）或家族性（一级亲属患相同疾病）的CJD：大脑和/或小脑皮质及/或皮质下灰质出现海绵状脑病；或具有朊病毒蛋白（PrP）免疫反应性的脑病（斑块型和/或弥漫性突触型和/或斑片状/空泡周围型）。格斯特曼-施特劳斯勒-谢inker病（GSS）（家族中存在显性遗传进行性共济失调和/或痴呆）：伴有多中心PrP斑块的脑（脊髓）病。家族性致死性失眠症（FFI）（家族中携带PRNP178突变的成员）：丘脑变性，大脑出现可变的海绵状改变。库鲁病（在福尔部落人群中）。在没有PrP数据的情况下，关键特征是伴有神经元丢失和胶质细胞增生的海绵状改变。这种海绵状改变的特征是在深层皮质层、小脑皮质或皮质下灰质的神经毡中出现弥漫性或局灶性聚集的小圆形或椭圆形空泡，这些空泡可能融合。海绵状改变不应与非特异性海绵样变混淆。这包括海绵状态（“海绵状状态”），即在广泛神经元丢失后（包括“终末期”CJD的病变）胶质化神经毡中出现不规则腔隙、脑水肿和代谢性脑病中的“海绵状”改变以及诸如皮质浅层、神经元周围或血管周围空泡化等人为假象；在某些阿尔茨海默病和弥漫性路易体病病例中可能会出现与海绵状改变难以区分的局灶性改变。极少数病例可能无法通过这些标准诊断。此时必须通过其他技术寻求确诊，如PrP免疫印迹、用于电子显微镜检查瘙痒病相关纤维（SAF）的标本制备、分子生物学研究或实验性传播。
