Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease

A. Ladogana, S. Almonti, R. Petraroli, E. Giaccaglini, C. Ciarmatori, Q. G. Liù, S. Bevivino, F. Squitieri, M. Pocchiari

Research output: Contribution to journalArticlepeer-review


Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classical clinical signs of CJD, including severe cognitive decline, cerebellar signs, myoclonic jerks, and synchronic periodic discharges on electroencephalogram. The E211Q mutation has been identified in family members, but not in 97 sporadic CJD patients referred to the Italian registry of CJD nor in 205 healthy normal subjects, suggesting a pathogenic role for this mutation.

Original languageEnglish
Pages (from-to)133-137
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - Oct 1 2001


  • Creutzfeldt-Jakob disease
  • Point mutation
  • Prion disease
  • PRNP gene
  • Transmissible spongiform encephalopathy

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease'. Together they form a unique fingerprint.

Cite this