Insomnia, fatal familial

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... 

COPI coat protein FFI fatal familial insomnia... 

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... 

Fatal familial insomnia 30 families Germ line mutation in PRNP... 

Gambetti P, Parchi P, Petersen RB, Chen SG, Lugaresi P (1995) Fatal familial insomnia and familial Creutzfeldt-Jakob disease Clinical, pathological and molecular features. Brain Pathol 5 43-51. 

Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia, and kuru are fatal diseases of the central nervous system, known as transmissible subacute spongiform encephalopathies (193). Creutzfeldt-Jakob disease is the most common of these and has an incidence of 1 1000 000 in most countries. About 10% of those involved have a familial disposition, but most cases occur sporadically. There are similar diseases in sheep (scrapie), cattle (bovine spongiform encephalopathy), and other animal species. The cause of the... 

CJD), Kuru, fatal-familial insomnia syndrome, and Gerstmann-Straussler-Schenker disease... 

McLean CA, Storey E, Gardner RJM, Tannenberg AEG, Cervenakova L, Brown P (1997) The D178N (cis-129M) fatal familial insomnia mutation associated with diverse clinico-pathologic phenotypes in an Australian kindred. Neurology 49 552... 

Collinge, J., Palmer, M.S., Sidle, K.C.L., Gowland, I., Medori, R., Ironside, J., and Lantos, P.L. (1995b). Transmission of fatal familial insomnia to laboratory animals. Lancet 346, 569-570. 

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. 

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