Prions fatal familial insomnia

Creutzfeldt-Jakob disease (CJD) New variant CJD Gerstmann-Straussler-Scheinker disease Fatal familial insomnia Kuru Prion protein Extracellular deposits... 

Human prion disease models have also been developed in mice [154,155]. Crossing the species barrier into an experimentally accessible animal system, the prions responsible for Creutzfeldt Jakob disease, new variant CJD, Gerstmann-Straussler-Scheinker disease, and fatal familial insomnia produce a reproducible time-dependent neuronal degeneration leading to death. 

The prion diseases are a closely related group of neuro-degenerative conditions which affect both humans and animals. They have previously been described as the subacute spongiform encephalopathies, slow virus diseases and transmissible dementias, and include scrapie in sheep, bovine spongiform encephalopathy (BSE) in cattle, and the human prion diseases, Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker disease (GSS), fatal familial insomnia (FFI) and kuru. Prion diseases are... 

The familial prion diseases are inherited in an autosomal dominant manner and account for 10-15% of all human prion disease. They include familial CID (fCJD), GSS, and fatal familial insomnia (FH) (reviewed by Gambetti et al., 2003 and by Kong et al., 2003). The familial prion diseases are caused by pathogenic mutations in the PRNP coding sequence. To date, these include 24 mis-sense mutations that result in amino... 

Medori, R., Montagna, R, Tritschler, H.J., LeBlanc, A., Cortelli, R, Tinuper, R, Lugaresi, E., and Gambetti, R (1992a) Fatal familial insomnia a second kindred with mutation of prion protein gene at codon 178. Neurology 4%, 669-670. 

R, Montagna, R, Ghetti, B., Goldfarb, L.G., Gajdusek, D.C., Lugaresi, E., Gambetti, R., and Autilio-Gambetti, L. (1994). Fatal familial insomnia and familial Creutzfeldt-Jakob disease different prion proteins determined by DNA polymorphism. Proc. Natl. Acad. Sci. U.S.A. 91, 2839-2842. 

V., Vnencakjones, C.L., McLean, M.J., Sheller,J.R. etal. (1995). Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann. Neurol. 38, 21-29. 

Known human prion diseases are Creutzfeldt-Jacob disease (CJD), Gerstmann-Straussler-Schienker syndrome (GSS) and fatal familial insomnia (FFI). GSS and FFI are inherited, whereas CJD may be inherited, sporadic or infectious. Another infectious form of CJD (iatrogenic CJD) arises from inadequately sterilized surgical instruments, dura mater grafts, and from human growth hormone isolated from cadavers. Kuru is a classical example of an infectious human prion disease transmitted by the ritual cannibalism of human brains, this disease was formerly common in the Fore tribe of New Guinea. 

Human TSEs are rare but include the Creutzfeldt-Jacob disease (CJD), Gertstmann-Straussler-Scheinker (GSS) disease, and famihal fatal insomnia. All three human diseases appear to have both familial and sporadic occurrence, and appear to be different manifestations of pathology of the same prion protein. Kuru is the human disease caused by ritual cannibalism of brain. Similarly, human vCJD appears to have originated in the mad cow BSE epidemic in the United Kingdom. The hypothesis... 

---