An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease

Brain Res Mol Brain Res. 1990 Apr;7(3):273-6. doi: 10.1016/0169-328x(90)90038-f.


In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Creutzfeldt-Jakob Syndrome / genetics*
  • DNA Transposable Elements*
  • Humans
  • Molecular Sequence Data
  • Prions / genetics*


  • DNA Transposable Elements
  • Prions