Article
Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).
Neurology - 1 Sept 1996
Barbanti P, Fabbrini G, Salvatore M, Petraroli R, Cardone F, Maras B, Equestre M, Macchi G, Lenzi G L, Pocchiari M
Abstract excerpt
We present a new, large, Italian family affected by Gerstmann-Sträussler-Scheinker syndrome (GSS) associated with the Pro to Leu point mutation at codon 102 of the prion protein gene (PRNP). The affected members of this family show a remarkable phenotypic variability of the disease: three of them...
Topics
- Aged
- Female
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Polymorphism, Genetic
- Prions