How to improve the clinical diagnosis of Creutzfeldt-Jakob disease

This paper describes a prospective follow-up of 364 patients initially noti fied as suspected Creutzfeldt-Jakob disease to a Surveillance Unit in Gotti ngen, Germany. Six patients were diagnosed as having genetic prion disease by blood analysis and were excluded from the study. After examination and r eview of the remaining 358, 193 were classified as probable Creutzfeldt-Jak ob disease. However, autopsy revealed that five of the 193 did not have Cre utzfeldt-Jakob disease (four cases, Alzheimer's disease; one case, cerebral lymphoma). Of the 54 patients classified as possible Creutzfeldt-Jakob dis ease, 10 had another diagnosis made at autopsy. Two of the 111 cases origin ally classified as having other diseases were found to have Creutzfeldt-Jak ob disease on autopsy. Autopsy evidence, together with follow-up of the pat ients still living and those who died without autopsy, revealed a broad ran ge of other diagnoses. In the younger age groups, the commonest were chroni c inflammatory diseases including Hashimoto encephalitis, whilst rapidly pr ogressive Alzheimer's disease was most common in the older age groups. The presence of 14-3-3 protein in the CSF discriminated better between Creutzfe ldt-Jakob disease and other rapidly progressive dementias than did the EEG pattern or the MRI. The inclusion of this CSF protein in the criteria of Ma sters and colleagues (Ann Neurol 1979; 5: 177-88) improves the accuracy and confidence in the clinical diagnosis of Creutzfeldt-Jakob disease.