Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele.

@article{Tagliavini1994AmyloidFI,
  title={Amyloid fibrils in Gerstmann-Str{\"a}ussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele.},
  author={Fabrizio Tagliavini and Frances Prelli and Michele Porro and Giacomina Rossi and Giorgio Giaccone and Martin R. Farlow and Stephen R. Dlouhy and Bernardino Ghetti and Orso Bugiani and Blas Frangione},
  journal={Cell},
  year={1994},
  volume={79 4},
  pages={695-703}
}
Gerstmann-Sträussler-Scheinker (GSS) disease is a cerebral amyloidosis linked to mutations of the PRNP gene. We previously reported that the amyloid protein in the Indiana kindred of GSS is an internal fragment of prion protein (PrP). To investigate whether this fragment originates only from mutant or from both mutant and wild-type PrP, we have characterized amyloid proteins purified from patients of the Indiana and Swedish GSS families. These patients were heterozygous for the Met-Val… CONTINUE READING