NR AEGT
AU Furukawa,H.; Kitamoto,T.; Tanaka,Y.; Tateishi,J.
TI New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome
QU Brain Research. Molecular Brain Research 1995 Jun; 30(2): 385-8
PT journal article
AB 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.
IN Auch beim Gerstmann-Sträussler-Syndrom führen verschiedene Mutationen zu unterschiedlichen Krankheitsverläufen.
ZR 19
MH Adult; Family; Female; Gene Expression; Gerstmann-Sträussler-Scheinker Disease/*genetics/metabolism; Human; Immunohistochemistry; Male; Middle Age; Mutation; Pedigree; Polymerase Chain Reaction; Prions/*genetics/metabolism; Support, Non-U.S. Gov't
AD Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
SP englisch
PO Niederlande
OR Prion-Krankheiten 3