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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Alanine
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Base Sequence
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Codon / genetics
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DNA, Viral / genetics
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DNA, Viral / isolation & purification*
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Female
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Genetic Variation*
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Germany / ethnology
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Gerstmann-Straussler-Scheinker Disease / genetics*
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Gerstmann-Straussler-Scheinker Disease / microbiology
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Humans
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Male
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Molecular Sequence Data
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Oligonucleotide Probes
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Open Reading Frames
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PrPSc Proteins
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Prions / genetics
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Prions / isolation & purification*
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Telencephalon
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United States
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Valine
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Viral Proteins / genetics*
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Viral Proteins / isolation & purification
Substances
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Codon
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DNA, Viral
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Oligonucleotide Probes
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PrPSc Proteins
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Prions
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Viral Proteins
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Valine
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Alanine