NR AGVD
AU Kretzschmar,H.A.; Kufer,P.; Riethmüller,G.; DeArmond,S.J.; Prusiner,S.B.; Schiffer,D.
TI Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome
QU Neurology 1992 Apr; 42(4): 809-10
PT journal article
AB We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.
MH Adult; Base Sequence; Case Report; *Codon; Female; Gerstmann-Sträussler-Scheinker Disease/*genetics; Human; Male; Middle Age; Molecular Probes/genetics; Molecular Sequence Data; *Mutation; PrPsc Proteins; Prions/*genetics; Support, Non-U.S. Gov't
AD Institute of Neuropathology, University of Munich, Germany.
SP englisch
PO USA