Genetic Creutzfeldt–Jakob disease

Anna Ladogana, Gabor G. Kovacs

Research output: Chapter in Book/Report/Conference proceedingChapter


Genetic Creutzfeldt–Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been identified in 10–15% of all CJD patients, who often have a family history of autosomal-dominant pattern of inheritance and variable penetrance. However, the use of genetic tests implemented by surveillance networks all over the world increasingly identifies unexpectedly PRNP mutations in persons apparently presenting with a sporadic form of CJD. A high phenotypic variability was reported in genetic prion diseases, which partly overlap with the features of sporadic CJD. Here we review recent advances on the epidemiologic, clinical, and neuropathologic features of cases that phenotypically resemble CJD linked to point and insert mutations of the PRNP gene. Multidisciplinary studies are still required to understand the phenotypic spectrum, penetrance, and significance of PRNP mutations.

Original languageEnglish
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Number of pages24
Publication statusPublished - Jan 1 2018

Publication series

NameHandbook of Clinical Neurology
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152


  • clinical phenotype
  • Creutzfeldt–Jakob disease
  • diagnostics
  • genetic CJD
  • genetics
  • mutations
  • neuropathologic phenotype
  • prion protein
  • PrP gene (PRNP)

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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