Diagnostic criteria for sporadic Creutzfeldt-Jakob disease

H. A. Kretzschmar, J. W. Ironside, S. J. DeArmond and J. Tateishi
Department of Neuropathology, University of Gottingen, Gottingen, Germany.

BACKGROUND: Making a clinical diagnosis of sporadic Creutzfeldt-Jakob disease relies on the evaluation of rapidly progressive dementia, ataxia, myoclonus, changes on the electroencephalogram, and other neurological signs. A definite diagnosis, however, is confined to cases that have been evaluated neuropathologically or by equivalent diagnostic techniques. This places a high priority on the establishment of reliable neuropathologic methods for the investigation and diagnosis of Creutzfeldt-Jakob disease. OBJECTIVE: To evaluate existing morphological and laboratory diagnostic techniques to reach a consensus on the definition of "definite Creutzfeldt-Jakob disease." METHODS: The existing morphological techniques, particularly immunohistochemistry, used in 4 laboratories--Germany, Great Britain, Japan, and the United States--are evaluated, and various laboratory diagnostic techniques are discussed. RESULTS: Immunohistochemistry with antibodies against the prion protein combined with special tissue pretreatment regimens gives reliable diagnostic results and, for its applicability to formalin-fixed and paraffin-embedded tissue, is superior to other techniques that may be more sensitive but require fresh, unfixed brain tissue. CONCLUSIONS: Our experience suggests the following regimen for the diagnosis of suspected Creutzfeldt-Jakob disease: light microscopy of various brain regions, which in typical cases may lead to definite diagnosis. Immunohistochemistry with antibodies against the prion protein is preferable in all suspected cases of Creutzfeldt-Jakob disease and is mandatory whenever a routine histological workup does not yield definite results. Additional special techniques can be applied if required.

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