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

Abstract

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
Volume103
Issue number2
DOIs
Publication statusPublished - Oct 1 2001

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

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