Article
Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome.
Neurology - 1 Mar 1991
Brown P, Goldfarb L G, Brown W T, Goldgaber D, Rubenstein R, Kascsak R J, Guiroy D C, Piccardo P, Boellaard J W, Gajdusek D C
Abstract excerpt
We have verified, by full open reading frame sequencing, the presence of an amino-acid-altering mutation in codon 102 of the scrapie amyloid protein gene in three affected members of a large and well-documented German family with experimentally transmitted Gerstmann-Sträussler-Scheinker syndrome....
Topics
- Adult
- Brain
- Female
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Immunohistochemistry
- Male
- Middle Aged
- Molecular Biology
- Mutation
- Open Reading Frames
- Pedigree
- Polymorphism, Restriction Fragment Length
- PrPC Proteins
- Protein Precursors
- Viral Proteins