Article
Gerstmann-Sträussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset.
Annales de genetique - 1 Jan 2000
Bianca Marco, Bianca Sebastiano, Vecchio Ignazio, Raffaele Rocco, Ingegnosi Carmela, Nicoletti Francesco
Abstract excerpt
Gerstmann-Sträussler-Scheinker disease (GSS) is an adult onset, rare, genetically determined autosomal dominant prion disease. Clinically, it is characterized predominantly by slowly progressive spino-cerebellar dysfunction with ataxia, absent reflexes in the legs and cognitive impairment. Onset is usually in the fifth decade and in the early phase, ataxia is predominant. Mutations in the prion protein gene...
Topics
- Adult
- Chromosomes, Human, Pair 20
- Codon
- DNA Mutational Analysis
- Depression
- Genotype
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Male
- Mood Disorders
- Phenotype
- Point Mutation
- Polymorphism, Genetic
- Prions