A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome.
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.
Hsiao
K K
KK
Department of Neurology, University of California, San Francisco 94143-0518.
Cass
C
C
Schellenberg
G D
GD
Bird
T
T
Devine-Gage
E
E
Wisniewski
H
H
Prusiner
S B
SB
D000409:Alanine; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004279:DNA, Viral / Q000235:genetics / Q000302:isolation & purification*; D005260:Female; D014644:Genetic Variation; D005858:Germany / Q000208:ethnology; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics* / Q000382:microbiology; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D016366:Open Reading Frames; D018620:PrPSc Proteins; D011328:Prions / Q000235:genetics / Q000302:isolation & purification*; D013687:Telencephalon; D014481:United States; D014633:Valine; D014764:Viral Proteins / Q000235:genetics* / Q000302:isolation & purification
D003062:Codon; D004279:DNA, Viral; D015345:Oligonucleotide Probes; D018620:PrPSc Proteins; D011328:Prions; D014764:Viral Proteins; D014633:Valine; D000409:Alanine