Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome

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

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

We have verified, by full open reading frame sequencing, the presence of an amino-acid-altering mutation in codon 102 of the scrapie amyloid protein gene in three affected members of a large and well-documented German family with experimentally transmitted Gerstmann-Sträussler-Scheinker syndrome. In addition, we identified the mutation by partial sequencing or DNA restriction enzyme analysis in three of 12 presently healthy family members with an affected parent, and none of 12 members without an affected parent. Thus, a total of six of 15 family members at risk for the disease (including the three established cases) had the same codon 102 mutation, a proportion consistent with the autosomal dominant inheritance pattern of disease expression. It is undetermined whether the mutation influences susceptibility to infection by an exogenous agent or is itself a proximate cause of disease.

Original languageEnglish
Pages (from-to)375-9
Number of pages5
JournalNeurology
Volume41
Issue number3
Publication statusPublished - Mar 1991

Keywords / Materials (for Non-textual outputs)

  • Adult
  • Brain
  • Female
  • Gerstmann-Straussler-Scheinker Disease
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Molecular Biology
  • Mutation
  • Open Reading Frames
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • PrPC Proteins
  • Protein Precursors
  • Viral Proteins

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