Article
A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene).
Molecular neurobiology - 1 Jan 2000
Petersen R B, Goldfarb L G, Tabaton M, Brown P, Monari L, Cortelli P, Montagna P, Autilio-Gambetti L, Gajdusek D C, Lugaresi E
Abstract excerpt
Fatal familial insomnia (FFI) is a subacute dementing illness originally described in 1986. The phenotypic characteristics of this disease include progressive untreatable insomnia, dysautonomia, endocrine and motor disorders, preferential hypometabolism in the thalamus as determined by PET scanning, and selective thalamic atrophy. These characteristics readily distinguish FFI from other previously described...
Topics
- Amino Acid Sequence
- Brain
- Creutzfeldt-Jakob Syndrome
- Humans
- Phenotype
- Point Mutation
- Polymorphism, Genetic
- Prion Diseases
- Prions
- Tomography, Emission-Computed