Transmissibility of Gerstmann-Straussler-Scheinker syndrome
in rodent models: new insights into the molecular underpinnings of prion infectivity.
Related conditions involving PRNP mutations include fatal familial insomnia and Gerstmann-Straussler-Scheinker syndrome
. Although generally controlled by modern practices, iatrogenic CJD has been reported to occur after administration of cadaveric human pituitary hormones, from contaminated neurosurgical instruments, and following corneal or dural graft transplants [2, 3].
Second, genetic prion diseases, including familial CJD (fCJD), fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker syndrome
(GSS), are caused by mutations of the PRNP gene, which increase the tendency for mutated [PrP.sup.C] to be misfolded into the abnormal [PrP.sup.Sc] [24, 25].
About 10 to 15 percent of prion diseases are caused by a mutation in the PRNP gene, leading to such deadly diseases as Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome
and fatal familial insomnia, the disease that killed Vallabh's mother.
Human TSEs are very rare and include CJD, fatal familial insomnia, Gerstmann-Straussler-Scheinker Syndrome
Since the discovery of CJD and vCJD other degenerative neurologic diseases were identified including kuru (a disorder that surfaced among the South Fore people (a tribe of remote highland natives) of New Guinea who practiced mortuary cannibalism reaching epidemic levels in the 1960s), Gerstmann-Straussler-Scheinker syndrome
(GSS) (a familial autosomal dominant disease occurring in the fourth and fifth decade of life), and fatal familial insomnia (FFI) (an autosomal dominant disease discovered by an Italian physician in 1979 and carried in the genome of 28 families worldwide).
Related prion disorders include Gerstmann-Straussler-Scheinker syndrome
, which is marked by cerebellar ataxia; and prion protein (PrP) and atypical forms of CJD caused by other mutations of the PrP gene (PRNP).
The TSE family of diseases includes bovine spongiform encephalopathy (BSE), which affects cattle; transmissible mink encephalopathy; feline spongif0rm encephalopathy; chronic wasting disease of deer and elk; and kuru, both classical and variant Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome
, and fatal familial insomnia, five rare diseases in humans.
This includes CJD, which has been caused accidentally by medical procedures, as well as Fatal Familial Insomnia (FFI) and Gerstmann-Straussler-Scheinker Syndrome
(GSS), rare forms of human transmissible spongiform encephalopathy known to be caused by genetic mutations of the prion protein.
Of the inherited forms of prion diseases, Gerstmann-Straussler-Scheinker syndrome
(GSS), familial Creutzfeldt-Jakob disease, and fatal familial insomnia make up a significant number of all cases in people who have an apparent hereditary predisposition to spongiform encephalopathies.
In humans, the prion diseases include CJD, Kuru, familial fatal insomnia (FFI) and Gerstmann-Straussler-Scheinker syndrome
Human genetic TSEs are caused by >30 autosomal-dominant point mutations in the human prion protein gene (Prnp) and have been classified as Gerstmann-Straussler-Scheinker syndrome
, familial Creutzfeldt-Jakob disease, or fatal familial insomnia (FFI), according to the clinical symptoms.