Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome

L G Goldfarb, P Brown, D Goldgaber, D M Asher, R Rubenstein, W T Brown, P Piccardo, R J Kascsak, J W Boellaard, D C Gajdusek

Research output: Contribution to journalArticlepeer-review

Abstract

We and others have recently reported that patients with the Gerstmann-Sträussler-Scheinker syndrome have a mutation at codon 102 of the gene coding for amyloid protein that accumulates in this disease. We report here that this mutation was not found in 5 familial and 27 sporadic cases of Creutzfeldt-Jakob disease or in 3 patients with kuru, so that although this mutation may be responsible for amyloidogenesis and transmissibility in Gerstmann-Sträussler-Scheinker syndrome, it cannot be the only cause of human spongiform encephalopathy.

Original languageEnglish
Pages (from-to)247-50
Number of pages4
JournalExperimental neurology
Volume108
Issue number3
Publication statusPublished - Jun 1990

Keywords

  • Base Sequence
  • Creutzfeldt-Jakob Syndrome
  • Humans
  • Kuru
  • Molecular Sequence Data
  • Mutation
  • Restriction Mapping
  • Slow Virus Diseases

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