Sporadic fatal insomnia

In sporadic fatal insomnia (sFI) there is MM at PrP codon 129 and type 2 PrP . sFI accounts for 2% of the sporadic cases and the phenotype is similar to that of inheritable FH, which is characterized by insomnia, but visual signs, cognitive impairment, and motor signs are also common. The mean age at onset is 50 years with a mean clinical duration of 24 months. 

Montagna P, Gambetti P, Cortelli P, Lugaresi E (2003) Familial and sporadic fatal insomnia. Lancet Neurol 2 167—176. 

Mastrianni JA, Nixon R, Layzer R, Telling GC, Han D, DeArmond SJ, Prusiner SB (1999) Prion protein conformation in a patient with sporadic fatal insomnia. N Engl J Med 340 1630-1638... 

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... 

Prion diseases have attracted immense attention over the past decade, prompted, in part, by the outbreak of mad cow disease in the United Kingdom. The most common prion disease is sporadic Creutzfeldt-Jakob disease (CJD). Clinically, CJD is characterized by a rapidly progressive dementia accompanied variably by early-onset seizures, insomnia, disordered movements, and psychiatric disturbances the disease is uniformly fatal. Histochemically, the principal pathological feature of prion disease is the abnormal accumulation of an amyloid-like material composed of prion protein (PrP), which is encoded by a single gene on the short arm of chromosome 20. 

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... 

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. 

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