MM2-thalamic-type sporadic Creutzfeldt-Jakob disease with widespread neocortical pathology
MM2-thalamic-type sporadic Creutzfeldt-Jakob disease with widespread neocortical pathology
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DOI：
10.1007/s00401-006-0131-3
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发表时间：
2006-10-01
影响因子：
12.7
通讯作者：
Sahashi, Ko
中科院分区：
文献类型：
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作者：
Hirose, Kazunori;Iwasaki, Yasushi;Sahashi, Ko
我们报告一例MM2-丘脑型散发性克雅氏病(SCJD)的尸检病例，伴有广泛的大脑新皮质病变。首发症状为进行性失眠和精神障碍。磁共振成像在弥散加权图像上没有发现高信号病变，后来显示逐渐进行性的大脑萎缩。未观察到周期性同步放电和肌阵挛。神经病理检查发现广泛的大脑新皮质受累并伴有细小的空泡型海绵状改变。丘脑内侧核变性严重，神经元几乎完全消失，组织疏松，大量富含脂肪的巨噬细胞和肥大的星形胶质细胞增多。下橄榄核受累严重，伴有神经元丢失和肥大的星形胶质细胞增多。在小脑皮质，浦肯野神经元中度耗竭，分子层无海绵状改变，颗粒细胞层无神经元丢失。PrP免疫组织化学染色显示大脑新皮质、基底节和小脑皮质有广泛的突触样沉积，并有原始斑块状沉积。PRP的沉积也见于脑干，特别是被盖、黑质和桥核，以及脊髓，特别是后角。在丘脑内侧核和下橄榄核，PrP沉积稀疏。对PrP基因的分析没有发现突变，但确实在第129位密码子上显示了蛋氨酸纯合。蛋白质印迹分析表明，抗蛋白酶PrP存在2型PrP。我们认为该患者患有MM2型丘脑型sCJD(散发性致命性失眠)，由于病程延长，伴有广泛的大脑新皮质病变。本病例显示大脑新皮质海绵状变性和PrP沉积的模式与以往报道的MM2型丘脑型sCJD不同。
We report an autopsy case of MM2-thalamic-type sporadic Creutzfeldt-Jakob disease (sCJD) with widespread cerebral neocortical pathology. Initial symptoms were progressive insomnia and mental disturbance. Magnetic resonance imaging revealed no high-signal intensity lesions on diffusion-weighted images and later showed gradually progressive cerebral atrophy. Periodic synchronous discharges and myoclonus were not observed. Upon neuropathologic examination, widespread cerebral neocortical involvement with fine vacuole-type spongiform change was observed. Severe degeneration with almost complete neuronal loss, tissue rarefaction, numerous fat-laden macrophages and hypertrophic astrocytosis of the medial thalamic nucleus was evident. The inferior olivary nucleus showed severe involvement with neuronal loss and hypertrophic astrocytosis. In the cerebellar cortex, moderate depletion of Purkinje neurons was evident, with no spongiform change in the molecular layer and no neuronal loss in the granule cell layer. Immunohistochemistry for prion protein (PrP) revealed widespread synaptic-type deposits with some primitive plaque-type deposits in the cerebral neocortex, basal ganglia and cerebellar cortex. PrP deposition was also observed in the brainstem, particularly the tegmentum, substantia nigra and pontine nucleus, and spinal cord, particularly the posterior horn. In the medial thalamus and inferior olivary nucleus, PrP deposition was sparse. Analysis of the PrP gene showed no mutation but did show methionine homozygosity at polymorphic codon 129. Western blot analysis of protease-resistant PrP indicated the presence of type 2 PrP. We believe that this patient suffered from MM2-thalamic-type sCJD (sporadic fatal insomnia) with widespread cerebral neocortical pathology due to prolonged disease duration. The present case showed different patterns of spongiform degeneration and PrP deposition in the cerebral neocortex than those in previously reported MM2-thalamic-type sCJD cases.