Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy

Ayush Dagvadorj, Robert B Petersen, Hee Suk Lee, Larisa Cervenakova, Alexey Shatunov, Herbert Budka, Paul Brown, Pierluigi Gambetti, Lev G Goldfarb

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observed. We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.

Original languageEnglish
Pages (from-to)355-9
Number of pages5
JournalAnnals of Neurology
Issue number3
Publication statusPublished - Sept 2002


  • Adult
  • Aged
  • Amyloid
  • Child
  • Family Health
  • Female
  • Haplotypes
  • Humans
  • Male
  • Pedigree
  • Point Mutation
  • Prion Diseases
  • Prion Proteins
  • Prions
  • Protein Precursors
  • Journal Article


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