Hamaguchi T, Kitamoto T, Sato T, Mizusawa H, Nakamura Y, Noguchi M, Furukawa Y, Ishida C, Kuji I, Mitani K, Murayama S, Kohriyama T, Katayama S, Yamashita M, Yamamoto T, Udaka F, Kawakami A, Ihara Y, Nishinaka T, Kuroda S, Suzuki N, Shiga Y, Arai H, Maruyama M, Yamada M
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Takara-machi, Kanazawa, Japan.
Neurology. 2005 Feb 22;64(4):643-8. doi: 10.1212/01.WNL.0000151847.57956.FA.
No method for the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) has been established except for pathologic examination.
To identify a reliable marker for the clinical diagnosis of MM2-type sCJD.
CSF, EEG, and neuroimaging studies were performed in eight patients with MM2-type sCJD confirmed by neuropathologic, genetic, and western blot analyses.
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 [18F]2-fluoro-2-deoxy-d-glucose PET.
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 [18F]2-fluoro-2-deoxy-d-glucose PET for the thalamic form.
除病理检查外，尚未建立MM2型散发性克雅氏病（sCJD）的临床诊断方法。
确定一种用于MM2型sCJD临床诊断的可靠标志物。
对8例经神经病理学、遗传学和western blot分析确诊的MM2型sCJD患者进行脑脊液、脑电图和神经影像学研究。
8例病例在病理上分为皮质型（n = 2）、丘脑型（n = 5）和混合型（皮质丘脑型）（n = 1）。皮质型的特点是起病较晚、痴呆进展缓慢、脑弥散加权成像（DWI）上皮质高信号以及脑脊液14-3-3蛋白水平升高。丘脑型表现出各种神经学表现，包括痴呆、共济失调以及锥体束和锥体外系体征，发病年龄各异，病程相对较长。几乎没有特征性的脑电图和MRI异常。然而，所有4例接受单光子发射计算机断层扫描（SPECT）脑血流（CBF）研究的患者均显示丘脑以及大脑皮质的CBF降低。混合型具有皮质型和丘脑型的特征，在DWI上显示皮质高信号，在[18F]2-氟-2-脱氧-D-葡萄糖正电子发射断层显像（PET）上显示丘脑代谢减低。
对于MM2型散发性克雅氏病的临床诊断，弥散加权MRI上的皮质高信号对皮质型有用，而脑血流SPECT或[18F]2-氟-2-脱氧-D-葡萄糖PET上的丘脑灌注减低或代谢减低对丘脑型有用。
