论文部分内容阅读
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.
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 neuro imaging studie s were performed in eight patients with MM2-type sCJD confirmed by neuropatholo gic, genetic, and western blot analyzes. Results: The eight cases were pathologic ally classified into the cortical (n = 2), thalamic (n = 5), and combined (corticothalamic) (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 almo st 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 cortical and the thalamic forms, cortical hyperintensity signals on DWI and hypometabolism of the thalamus on [18F] 2-fluoro-2-deoxy-D-glucose PET. Conclusion: For the clinical diagnosis 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.