Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.


Journal Article

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (theta) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at theta = 0.0. No evidence for linkage heterogeneity was found in the combined data set.

Full Text

Duke Authors

Cited Authors

  • Speer, MC; Goldgaber, D; Goldfarb, LG; Roses, AD; Pericak-Vance, MA

Published Date

  • February 1991

Published In

Volume / Issue

  • 9 / 2

Start / End Page

  • 366 - 368

PubMed ID

  • 1672296

Pubmed Central ID

  • 1672296

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1016/0888-7543(91)90266-h


  • eng

Conference Location

  • United States