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

Hisako Furukawa, Tetsuyuki Kitamoto, Yutaka Tanaka, Jun Tateishi

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

We found novel variants in the open reading frame of the priors 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.

Original languageEnglish
Pages (from-to)385-388
Number of pages4
JournalMolecular Brain Research
Volume30
Issue number2
DOIs
Publication statusPublished - 1995 Jun
Externally publishedYes

Keywords

  • Codon 102 mutation
  • Codon 219 polymorphism
  • Gerstmann-Sträussler syndrome
  • Prion protein

ASJC Scopus subject areas

  • Molecular Biology
  • Cellular and Molecular Neuroscience

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