Thalamic form of Creutzfeldt-Jakob disease or fatal insomnia? Report of a sporadic case with normal prion protein genotype

摘要: We describe a 68-year-old man with 53-month history of progressive dementia and clinical features supranuclear palsy-like syndrome dysautonomia. In the late stage his illness, patient also developed generalized myoclonic seizures. There was no family similar disorders. Histological examination revealed neuronal loss gliosis spongiosis in cerebral cortex. addition, more severe without were observed thalamus, especially anterior ventral mediodorsal nuclei, inferior olivary nucleus. obvious Purkinje cells. Immunohistochemically, protease-resistant prion protein (PrPres)-positive structures demonstrated. However, Western blotting presence PrPres This had wild type PrP genotype. initially considered this to be case thalamic form Creutzfeldt-Jakob disease (CJD) long duration. it is noteworthy that essentially pathology, albeit less cortical changes, has been reported fatal familial insomnia, newly identified phenotypically different mutation gene. On basis clinicopathological features, we eventually felt likely have sporadic insomnia (FI) The present appears draw further attention possible relationship between CJD FI.