A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome

K. K. Hsiao, C. Cass, G. D. Schellenberg, T. Bird, E. Devine-Gage, H. Wisniewski, S. B. Prusiner

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Abstract

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 offspring and spouses. The mutation was absent in one member with a protracted neurologic illness that differed from the other affected members' illnesses. The identification of a distinct PRNP mutation in the telencephalic form of GSS supports the hypothesis that allelic forms of PRNP may correspond to distinct clinical disease entities.

Original languageEnglish (US)
Pages (from-to)681-684
Number of pages4
JournalNeurology
Volume41
Issue number5
DOIs
StatePublished - May 1991

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