Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease

Seiji Hitoshi, Hiroshi Nagura, Hiroshi Yamanouchi, Tetsuyuki Kitamoto

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46 Citations (Scopus)

Abstract

Several polymorphisms of the prion protein gene are associated with the occurrence of familial Creutzfeldt-Jakob disease. We described a 84-year-old Japanese man with neuropathologically verified Creutzfeldt-Jakob disease of apparently sporadic type. His clinical presentation was atypical in point of a very late age at onset and absence of periodic synchronous discharge on electroencephalography. The patient carried double hitherto undescribed mutations of the prion protein gene; at codon 180 on one allele and at codon 232 on another. The mutation at codon 180 abolishes the Tth111I cutting site, which may be misunderstood to represent codon 178 mutation on routine restriction fragment length polymorphism study.

Original languageEnglish
Pages (from-to)208-212
Number of pages5
JournalJournal of the neurological sciences
Volume120
Issue number2
DOIs
Publication statusPublished - 1993 Dec 15
Externally publishedYes

Keywords

  • Creutzfeldt-Jakob disease
  • PRNP gene
  • Restriction fragment length polymorphism
  • Western blotting
  • prion protein

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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