Title |
A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome.
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Published in |
Neurology, May 1991
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DOI | 10.1212/wnl.41.5.681 |
Pubmed ID | |
Authors |
K K Hsiao, C Cass, G D Schellenberg, T Bird, E Devine-Gage, H Wisniewski, S B Prusiner |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 2% |
Unknown | 49 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 14 | 28% |
Professor | 7 | 14% |
Student > Ph. D. Student | 6 | 12% |
Student > Doctoral Student | 4 | 8% |
Student > Bachelor | 2 | 4% |
Other | 8 | 16% |
Unknown | 9 | 18% |
Readers by discipline | Count | As % |
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Neuroscience | 5 | 10% |
Psychology | 2 | 4% |
Other | 6 | 12% |
Unknown | 10 | 20% |