Abstract
The prion diseases, which include Creutzfeld-Jacob disease (CJD) and Gerstmann-Sträussler-Scheinker disease in humans, and scrapie and bovine spongiform encephalopathy in animals, are a group of neurodegenerative diseases that are characterised histologically by spongiform neuronal degeneration, neuronal astrocytosis and the accumulation of an abnormal form of the cellular prion protein (PrPC), PrPSc, which may form amyloid deposits (Beck and Daniel, 1987). Around 15% of human prion disease is inherited and these cases can be diagnosed by detection of pathogenic mutations in the prion protein gene (PRNP) (Palmer and Collinge, 1993). These diagnostic molecular markers have allowed recognition of a wider spectrum of human prion disease, encompassing cases of atypical pre-senile dementia without the characteristic histological features of CJD and GSS (Collinge et al. 1990).
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Sidle, K., Will, B., Lantos, P., Collinge, J. (1998). Transmission Studies of Fatal Familial Insomnia. In: Morrison, D.R.O. (eds) Prions and Brain Diseases in Animals and Humans. NATO ASI Series, vol 295. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-1896-3_31
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DOI: https://doi.org/10.1007/978-1-4899-1896-3_31
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