Familial Creutzfeldt-Jakob disease in Japan: Three cases in a family with white matter involvement

Three cases of Creutzfeldt-Jakob disease occurring in one family have been clinicopathologically examined. Although the age at onset, duration, and age at death differed for each case, pathological findings, including diffuse neuronal loss, astrocytosis, spongiform changes and patchy and/or diffuse white matter involvement were similar. Life histories and inheritance patterns of the present 3 cases and 2 other families previously reported in Japan are compared with the general findings for familial cases in western countries.