Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

Histopathological features and western blot profile of PrPTSE in CJD R208H-129V. Status spongiosus associated with severe gliosis and neuronal loss in the temporal cortex (a, H&E, the asterisk indicates the white matter junction). Severe gliosis of subcortical white matter with many gemistocytic astrocytes and scattered macrophages (b, H&E, frontal lobe). Small, unicentric amyloid plaque (arrow) at the transition between the molecular and granular layers of the cerebellum (c, H&E). Synaptic PrP staining in the cortical gray matter and plaque-like deposits in subcortical white matter (d, PrP immunohistochemistry, temporal lobe). Diffuse synaptic pattern of PrPTSE deposition in the molecular layer and plaque-like deposits associated with few small plaques in the granular layer of the cerebellum (e, PrP immunohistochemistry). Immunoblot profiles of PK-treated PrPTSE in CJD R208H, sCJD MM1 and sCJD VV2 (f). Samples were probed with the primary antibody 3F4. Relative molecular masses are expressed in kDa. FC: frontal cortex, INS: insular cortex, CAU: caudate nucleu