Brain Res Mol Brain Res. 1995 Jun;30(2):385-8.

New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome.

Furukawa H, Kitamoto T, Tanaka Y, Tateishi J.

Source

Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

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.

PMID:: 7637591; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

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Research Support, Non-U.S. Gov't

MeSH Terms

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Prions

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Cited by 4 PubMed Central articles

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