Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease
Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease
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DOI：
10.1212/01.wnl.0000151847.57956.fa
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发表时间：
2005-02-22
期刊：
影响因子：
9.9
通讯作者：
Yamada, M
中科院分区：
文献类型：
--
作者：
Hamaguchi, T;Kitamoto, T;Yamada, M
背景：mm2型散发性克雅氏病（sCJD）除病理检查外，尚无临床诊断方法。目的：寻找临床诊断mm2型sCJD的可靠标志物。方法：对8例经神经病理学、遗传学和western blot分析证实的mm2型sCJD患者进行脑脊液、脑电图和神经影像学检查。结果：8例患者病理分为皮质型（n = 2）、丘脑型（n = 5）和合并型（皮质丘脑型）（n = 1）。皮质型表现为迟发性缓慢进展性痴呆，脑弥散加权成像（DWI）皮质高信号，脑脊液14-3-3蛋白水平升高。丘脑型表现出多种神经系统症状，包括痴呆、共济失调、锥体和锥体外体体征，发病年龄不同，病程较长。几乎没有特征性的脑电图和MRI异常。然而，使用SPECT进行脑血流（CBF）研究的所有四名患者都显示丘脑和大脑皮层的CBF减少。合并形态同时具有皮层和丘脑形态的特征，DWI显示皮层高信号，[F-18]2-氟-2-脱氧-d -葡萄糖PET显示丘脑低代谢。结论：对于mm2型散发性克雅病的临床诊断，弥散加权MRI皮质高信号对皮质型和丘脑低灌注或低代谢的脑血流SPECT或[F-18]2-氟o2-脱氧- d -葡萄糖PET对丘脑型有用。
Background: No method for the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) has been established except for pathologic examination. Objective: To identify a reliable marker for the clinical diagnosis of MM2-type sCJD. Methods: CSF, EEG, and neuroimaging studies were performed in eight patients with MM2-type sCJD confirmed by neuropathologic, genetic, and western blot analyses. Results: The eight cases were pathologically classified into the cortical (n = 2), thalamic (n = 5), and combined (corticothalamic) (n = 1) forms. The cortical form was characterized by late-onset, slowly progressive dementia, cortical hyperintensity signals on diffusion-weighted imaging (DWI) of brain, and elevated levels of CSF 14-3-3 protein. The thalamic form showed various neurologic manifestations including dementia, ataxia, and pyramidal and extrapyramidal signs with onset at various ages and relatively long disease duration. Characteristic EEG and MRI abnormalities were almost absent. However, all four patients examined with cerebral blood flow (CBF) study using SPECT showed reduction of the CBF in the thalamus as well as the cerebral cortex. The combined form had features of both the cortical and the thalamic forms, showing cortical hyperintensity signals on DWI and hypometabolism of the thalamus on [F-18]2-fluoro-2-deoxy-D-glucose PET. Conclusion: For the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease, cortical hyperintensity signals on diffusion-weighted MRI are useful for the cortical form and thalamic hypoperfusion or hypometabolism on cerebral blood flow SPECT or [F-18]2-fluoro2- deoxy-D-glucose PET for the thalamic form.