Background: No method for the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) has been established exce pt for pathologic examination. Objective: To identify a reliable marker for the clinical...Background: No method for the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) has been established exce pt for pathologic examination. Objective: To identify a reliable marker for the clinical diagnosis of MM2-type sCJD.Methods: CSF, EEG, and neuro imaging studie s were performed in eight patients with MM2-type sCJD confirmed by neuropatholo gic,genetic, and western blot analyses. Results: The eight cases were pathologic ally classified into the cortical (n= 2), thalamic (n = 5), and combined (cortic othalamic) (n =1) forms. The cortical form was characterized by late-onset,slow ly progressive dementia, cortical hyperintensity signals on diffusion-weighted imaging (DWI) of brain, and elevated levels of CSF 14-3-3 protein. The thalami c form showed various neurologic manifestations including dementia, ataxia, and pyramidal and extrapyramidal signs with onset at various ages and relatively lon g 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, sh owing cortical hyperintensity signals on DWI and hypometabolism of the thalamus on [18F]2-fluoro-2-deoxy-D-glucose PET. Conclusion: For the clinical diagno sis of MM2-type sporadic Creutzfeldt-Jakob disease,cortical hyperintensity sig nals on diffusion-weighted MRI are useful for the cortical form and thalamic hy poperfusion or hypometabolism on cerebral blood flow SPECT or [18F]2-fluoro-2 -deoxy-D-glucose PET for the thalamic form.展开更多
Objective: To investigate abnormal prion protein (PrP) deposition in the perip heral nervous system (PNS) in human prion diseases. Methods: Eight patients with prion diseases were examined:three with sporadic Creutzfe...Objective: To investigate abnormal prion protein (PrP) deposition in the perip heral nervous system (PNS) in human prion diseases. Methods: Eight patients with prion diseases were examined:three with sporadic Creutzfeld-Ja- kob disease (sCJD),two with dural graft associated CJD (dCJD), one with Gerstm ann-Strussler-Scheinker disease (GSS) with a PrP P102L mutation (GSS102), an d two with a P105L mutation (GSS105).An atypical case of sCJD with PrP plaques i n the brain presented clinically with peripheral neuropathy, and showed demyelin ation in 12%of the teased fibres of the sural nerve. The PNS was investigated b y immunohistochemical and western blotting analyses of PrP. Results: In immunohi stochemical studies,granular PrP deposits were detected in some neurones of dors al root ganglia and a few fibres of peripheral nerves and spinal posterior roots in one sCJD and two dCJD patients, but not in GSS102 or GSS105 patients. The at ypical case of sCJD with peripheral neuropathy showed no obvious PrP deposition in the nerves.Western blotting analysis of the PNS from the dCJD patients reveal ed a small amount of protease K resistant PrPin the dorsal root ganglia and peri pheral nerves. Conclusions:Abnormal PrP deposition occurs in the dorsal root gan glia and peripheral nerves in sCJD and dCJD. The PrP deposits in the PNS are not correlated with clinical manifestation of peripheral neuropathy in CJD.展开更多
文摘Background: No method for the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) has been established exce pt for pathologic examination. Objective: To identify a reliable marker for the clinical diagnosis of MM2-type sCJD.Methods: CSF, EEG, and neuro imaging studie s were performed in eight patients with MM2-type sCJD confirmed by neuropatholo gic,genetic, and western blot analyses. Results: The eight cases were pathologic ally classified into the cortical (n= 2), thalamic (n = 5), and combined (cortic othalamic) (n =1) forms. The cortical form was characterized by late-onset,slow ly progressive dementia, cortical hyperintensity signals on diffusion-weighted imaging (DWI) of brain, and elevated levels of CSF 14-3-3 protein. The thalami c form showed various neurologic manifestations including dementia, ataxia, and pyramidal and extrapyramidal signs with onset at various ages and relatively lon g 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, sh owing cortical hyperintensity signals on DWI and hypometabolism of the thalamus on [18F]2-fluoro-2-deoxy-D-glucose PET. Conclusion: For the clinical diagno sis of MM2-type sporadic Creutzfeldt-Jakob disease,cortical hyperintensity sig nals on diffusion-weighted MRI are useful for the cortical form and thalamic hy poperfusion or hypometabolism on cerebral blood flow SPECT or [18F]2-fluoro-2 -deoxy-D-glucose PET for the thalamic form.
文摘Objective: To investigate abnormal prion protein (PrP) deposition in the perip heral nervous system (PNS) in human prion diseases. Methods: Eight patients with prion diseases were examined:three with sporadic Creutzfeld-Ja- kob disease (sCJD),two with dural graft associated CJD (dCJD), one with Gerstm ann-Strussler-Scheinker disease (GSS) with a PrP P102L mutation (GSS102), an d two with a P105L mutation (GSS105).An atypical case of sCJD with PrP plaques i n the brain presented clinically with peripheral neuropathy, and showed demyelin ation in 12%of the teased fibres of the sural nerve. The PNS was investigated b y immunohistochemical and western blotting analyses of PrP. Results: In immunohi stochemical studies,granular PrP deposits were detected in some neurones of dors al root ganglia and a few fibres of peripheral nerves and spinal posterior roots in one sCJD and two dCJD patients, but not in GSS102 or GSS105 patients. The at ypical case of sCJD with peripheral neuropathy showed no obvious PrP deposition in the nerves.Western blotting analysis of the PNS from the dCJD patients reveal ed a small amount of protease K resistant PrPin the dorsal root ganglia and peri pheral nerves. Conclusions:Abnormal PrP deposition occurs in the dorsal root gan glia and peripheral nerves in sCJD and dCJD. The PrP deposits in the PNS are not correlated with clinical manifestation of peripheral neuropathy in CJD.
