Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis.

Abstract excerpt

Human prion diseases are a group of rare neurodegenerative disorders characterized by the conversion of the constitutively expressed prion protein, PrP(C), into an abnormally aggregated isoform, called PrP(Sc). While most people who develop a prion disease have no identifiable cause and a few acquire the disease through an identified source of infection, about 10-15% of patients are affected by a genetic form and...

Topics

• Animals
• Creutzfeldt-Jakob Syndrome
• Genetic Predisposition to Disease
• Humans
• Insomnia, Fatal Familial
• Phenotype
• Prions