Article
Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.
Neurology - 1 Apr 1992
Kretzschmar H A, Kufer P, Riethmüller G, DeArmond S, Prusiner S B, Schiffer D
Abstract excerpt
We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.
Topics
- Adult
- Base Sequence
- Codon
- Female
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Male
- Middle Aged
- Molecular Probes
- Molecular Sequence Data
- Mutation
- PrPSc Proteins