Article
[Genetic background of human prion diseases].
Ideggyogyaszati szemle - 30 Nov 2007
Kovács Gábor Géza
Abstract excerpt
Human prion diseases may be sporadic, genetic, or acquired. The human prion protein gene (PRNP) is located to chromosome 20 (20p12-ter). Mutations and polymorphisms in the PRNP are associated with prion disease. Genetic prion diseases are inherited in an autosomal dominant trait, examination of the penetrance is restricted to mutation E200K (59-89%). Mutations can be substitutions or insertions. Genetic prion...
Topics
- Alzheimer Disease
- Apolipoprotein E2
- Apolipoprotein E4
- Blotting, Western
- Cognition Disorders
- Creutzfeldt-Jakob Syndrome
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Insomnia, Fatal Familial
- Mutation
- Phenotype
- Polymorphism, Genetic
- Prion Diseases
- Prion Proteins
- Prions
- Prognosis