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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene.

The Indiana kindred variant of Gerstmann-Sträussler-Scheinker disease has amyloid plaques that contain prion protein ( PrP), but is atypical because neurofibrillary tangles like those of Alzheimer disease are present. To map the position of the disease causing gene, we used three markers for linkage analyses. A missense mutation at codon 198 of the PrP gene (PRNP) is found in all definitely affected individuals and yields a maximum lod score of 6.37 (theta = 0). The disease also is concordant with the two other PRNP-region markers. These results demonstrate tight linkage of the disease-causing gene to PRNP and support the hypothesis that the codon 198 mutation is the cause of IK- GSS. Our studies also suggest that methionine/valine heterozygotes at PRNP codon 129 have a later age of onset of the disease than codon 129 valine/valine homozygotes.[1]

References

  1. Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Dlouhy, S.R., Hsiao, K., Farlow, M.R., Foroud, T., Conneally, P.M., Johnson, P., Prusiner, S.B., Hodes, M.E., Ghetti, B. Nat. Genet. (1992) [Pubmed]
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