Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.
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.
Institute of Neuropathology, University of Munich, Germany.
H A
HA
Kretzschmar
P
P
Kufer
G
G
Riethmüller
S
S
DeArmond
S B
SB
Prusiner
D
D
Schiffer
D000328:Adult; D001483:Base Sequence; D003062:Codon; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015335:Molecular Probes / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D018620:PrPSc Proteins; D011328:Prions / Q000235:genetics*
D003062:Codon; D015335:Molecular Probes; D018620:PrPSc Proteins; D011328:Prions