EXPANDED DISEASE SPECTRUM OF HUMAN SPONGI FORM ENCEPHALOPATHIES OR PRION DISEASES

Since its first description by H.G. Creutzfeldt and A.Jakob, six forms of human spongiform encephalopathies have been described. Besides Cre utzfeldt-Jakob disease (CJD), a new variant CJD (nvCJD), Gerstmann-Str aussler Scheinker syndrome (GSS), fatal familial insomnia (FFI) and po tentially familial progressive subcortical gliosis have been reported. The most likely causative agent of these and at least six animal-tran smissible spongiform encephalopathies (TSE) is a structurally altered form of a regular cellular protein, designated prion. The best known a nimal forms are bovine spongiform encephalopathy (BSE) and scrapie. Th e clinical spectrum of human spongiform encephalopathies has been expa nded in recent years by the discovery of new, partially genetically de termined forms. The currently available clinical, neurophysiological, neuroradiological, biochemical and molecular-biological methods permit only a probable diagnosis of CJD. A definite diagnosis can only be ac hieved by the neuropathological demonstration of the pathological prio n protein (PrPSc). The transmission of BSE to humans has neither been shown nor definitely excluded.