The occurrence of sporadic prion disease among adolescents is extremely rare. A prion disease was confirmed in an adolescent with disease onset at 13 years of age. Genetic, neuropathologic, and biochemical analyses of the patient's autopsy brain tissue were consistent with sporadic fatal insomnia, a type of sporadic prion disease. There was no evidence of an environmental source of infection, a...

UNLABELLED Prion diseases are infectious neurodegenerative disorders characterized by accumulations of abnormally folded cellular prion protein in affected tissues. Many natural prion diseases are acquired orally, and following exposure, the early replication of some prion isolates upon follicular dendritic cells (FDC) within gut-associated lymphoid tissues (GALT) is important for the efficient...

Transgenic mice expressing human prion protein in the absence of endogenous mouse prion protein faithfully replicate human prions. These models reproduce all of the key features of human disease, including long clinically silent incubation periods prior to fatal neurodegeneration with neuropathological phenotypes that mirror human prion strain diversity. Critical contributions to our understand...

The occurrence of blood-borne prion transmission incidents calls for identification of potential prion carriers. However, current methods for intravital diagnosis of prion disease rely on invasive tissue biopsies and are unsuitable for large-scale screening. Sensitive biomarkers may help meeting this need. Here we scanned the genome for transcripts elevated upon prion infection and encoding sec...

Creutzfeldt-Jacob disease is the most common form of prion diseases, which have become public health problems in the last two decades because of the high number of reported cases of mad cow disease in Great Britain and other countries. Creutzfeldt-Jacob disease is a fatal situation with known cardinal clinical features including progressive memory loss and myoclonic seizure disorder. In this re...

Dietary exposure to prion-contaminated materials has caused kuru and variant Creutzfeldt-Jakob disease in humans and transmissible spongiform encephalopathies (TSEs) in cattle, mink, and felines. The epidemiology of dietary prion infections suggests that host genetic modifiers and possibly exogenous cofactors may play a decisive role in determining disease susceptibility. However, few cofactors...

Inherited prion diseases are neurodegenerative disorders caused by autosomal dominant mutations in the human prion protein gene (PRNP). Kindred with inherited prion disease can show remarkable phenotypic variability that has yet to be explained. Here we report analysis of protease resistant disease-related prion protein (PrP(Sc)) isoforms from a range of inherited prion disease cases (point mut...

Human prion brain disease has been studied intensely since 1920. Examples of such diseases include Creutzfeldt-Jakob disease (CJD), fatal familial insomnia, Gerstmann-StrausslerScheinker disease, and Kuru. Central in the epidemiology and pathogenesis of prion diseases is the prion protein itself and the gene for this protein resides on chromosome 12, at locus 20pterp12. The prion protein is ter...

The risks posed to human health by individual animal prion diseases cannot be determined a priori and are difficult to address empirically. The fundamental event in prion disease pathogenesis is thought to be the seeded conversion of normal prion protein to its pathologic isoform. We used a rapid molecular conversion assay (protein misfolding cyclic amplification) to test whether brain homogena...

Abstract: Bovine Spongiform Encephalopathy (BSE) has a place with the uncommon cluster of continuously progressive neurological infections identified as Transmissible Encephalopathies (TSEs). TSE sicknesses are described by long incubation periods ranging from while for transmissible mink encephalopathy, to several years BSE. consistence testaments sort CEP (Certificate Suitability). During 198...