title: New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome.
abstract: 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.
authors.affiliation: Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Furukawa
authors.forename: T
authors.initials: T
authors.lastname: Kitamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Tanaka
authors.forename: J
authors.initials: J
authors.lastname: Tateishi
mesh_terms: 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
chemical_list: D011328:Prions