Article
Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies.
Neurology - 1 Dec 1994
Laplanche J L, Delasnerie-Lauprêtre N, Brandel J P, Chatelain J, Beaudry P, Alpérovitch A, Launay J M
Abstract excerpt
Human prion diseases are characterized by the accumulation in the brain of an abnormal form of the prion protein. Prion protein polymorphisms seem to play a key role in the pathogenesis of these diseases, probably by enhancing the amyloidogenic properties of the protein. We performed prion protei...
Topics
- Adult
- Age of Onset
- Aged
- Codon
- Creutzfeldt-Jakob Syndrome
- Electroencephalography
- France
- Genotype
- Homozygote
- Humans
- Middle Aged
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Prion Diseases
- Prions
- Reference Values