Article
Hereditary Human Prion Diseases: an Update.
Molecular neurobiology - 1 Aug 2017
Schmitz Matthias, Dittmar Kathrin, Llorens Franc, Gelpi Ellen, Ferrer Isidre, Schulz-Schaeffer Walter J, Zerr Inga
Abstract excerpt
Prion diseases in humans are neurodegenerative diseases which are caused by an accumulation of abnormal, misfolded cellular prion protein known as scrapie prion protein (PrPSc). Genetic, acquired, or spontaneous (sporadic) forms are known. Pathogenic mutations in the human prion protein gene (PRNP) have been identified in 10-15 % of CJD patients. These mutations may be single point mutations, STOP codon...
Topics
- Humans
- Inheritance Patterns
- Mutation
- Prion Diseases
- Prion Proteins