Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome

Neurology. 1992 Apr;42(4):809-10. doi: 10.1212/wnl.42.4.809.

Abstract

We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Codon*
  • Female
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Probes / genetics
  • Molecular Sequence Data
  • Mutation*
  • PrPSc Proteins
  • Prions / genetics*

Substances

  • Codon
  • Molecular Probes
  • PrPSc Proteins
  • Prions