Article
A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome.
Neurology - 1 May 1991
Hsiao K K, Cass C, Schellenberg G D, Bird T, Devine-Gage E, Wisniewski H, Prusiner S B
Abstract excerpt
We present a patient with a mutation in the open reading frame of the prion protein gene (PRNP), which results in substitution of valine for alanine at codon 117. The patient is a member of a large American kindred of German descent with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome (GSS). Two other affected members of this kindred carried this mutation, as inferred from haplotypes of their...
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