Recent advances in the pre-mortem diagnosis of Creutzfeldt-Jakob disease

Included in the spectrum of human transmissible spongiform encephalopathies are Creutzfeldt-Jakob disease (CJD) and the new variant form (vCJD), Gerst mann-Straussler-Scheinker syndrome, fatal familial insomnia, kuru and vario us less distinct neuropsychiatric disorders. Progress in our understanding of this group of disorders continues at a prodigious rate, although importa nt vexing practical issues persist. The definitive confirmation of symptoma tic prion disease still requires pathological examination, most reliably pe rformed post-mortem. However, paralleling the recent advances in the molecu lar biological understanding of normal prion protein (PrPc) function and th e pathophysiology of prion diseases, there have been worthwhile development s in the pre-mortem diagnosis of CJD. Efforts to develop less invasive but very reliable ante-mortem diagnostic tests have received an additional impe tus because of the potential epidemic of vCJD, Historically, the ancillary investigation of most merit has been the EEG, whereas the recent advances h ave encompassed a broader range of technologies, including both magnetic re sonance and radioisotopic neuroimaging, and immunoassays for a range or non -specific marker proteins in both CSF, and less commonly, blood. However, g iven the recent refinement of sophisticated immunoassays, it is envisaged t hat the pathognomonic, protease-resistant, disease-associated isoforms of t he prion protein (PrPres) may soon be directly detectable in the blood and tissues of patients manifesting or incubating a spongiform encephalopathy. (C) 2000 Harcourt Publishers Ltd.