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Molecular Genetics

Prion diseases, or Transmissible Spongiform Encephalopathies (TSEs), are a group of neurodegenerative disorders which include kuru, Creutzfeldt-Jakob Disease (CJD), Gerstmann-Sträussler-Scheinker Disease (GSS), and Fatal Familial Insomnia (FFI) and its sporadic analogue, fatal sporadic insomnia, in humans; natural scrapie in sheep and goats; Bovine Spongiform Encephalopathy (BSE) in cattle; Chronic Wasting Disease (CWD) in cervids; and Transmissible Mink Encephalopathy (TME) in ranch-reared mink. Variable Protease- Sensitive Prionopathy (VPSP) is a new disease described recently by Gambetti et al. The majority of human prion diseases are sporadic, but there are also familial forms. Some of the latter were recognized long before the era of the ‘protein-only’ model of prion diseases and molecular genetics, as exemplified by the famous case of a disease in the Backer family. Pawel P Liberski, Molecular Genetics of Gerstmann-Straussler-Scheinker Disease and Creutzfeld-Jakob Disease
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Last date updated on April, 2021