New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome.
We found novel variants in the open reading frame of the prion protein (PrP) gene in a family with Gerstmann-Sträussler syndrome (GSS). Codon 219Lys variant is a normal polymorphism which we found recently. Some GSS cases were identified with codon 102 mutation (proline to leucine) and codon 219Lys polymorphism. While two families had a codon 102 mutation and codon 219Lys polymorphism in different alleles, 4 patients in one family had both in the same allele. The clinicopathological features of these 4 patients were clearly different from previously reported GSS patients with codon 102 mutation. These cases should be reported as a new variant of GSS.
Furukawa
H
H
Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Kitamoto
T
T
Tanaka
Y
Y
Tateishi
J
J
D000328:Adult; D005190:Family; D005260:Female; D015870:Gene Expression; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011328:Prions / Q000235:genetics* / Q000378:metabolism
D011328:Prions