Genetic Creutzfeldt-Jakob Disease

Piero Parchi, Pierluigi Gambetti, Sabina Capellari

Research output: Chapter in Book/Report/Conference proceedingChapter


The group commonly referred to as genetic, inherited or familial Creutzfeldt-Jakob disease includes the prion diseases associated with a PRNP mutation that have clinical and histopathological features falling within the spectrum of Creutzfeldt-Jakob disease. Genetic Creutzfeldt-Jakob disease is associated with at least 20 distinct genetic mutations that are all transmitted as autosomal dominant traits and include point, deletion and insertion mutations. The common polymorphic codon 129 of PRNP also plays an important and complex role in risk and phenotype of sporadic and genetic prion disease. As a consequence, genetic Creutzfeldt-Jakob disease is classified into many groups based on the PRNP haplotype determined by a specific mutation and the codon 129 genotype on the mutant allele. This chapter will focus on the clinical and histopathological features of genetic Creutzfeldt-Jakob disease. The various genetic Creutzfeldt-Jakob disease phenotypes are presented in relation to their prevalence. Phenotypes that are relatively common are described individually and in detail while the others are summarized. Other forms of inherited prion diseases are discussed in the fatal familial insomnia and Gerstmann-Sträussler-Scheinker syndrome sections.

Original languageEnglish
Title of host publicationNeurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition
Number of pages10
ISBN (Print)9781405196932
Publication statusPublished - Sep 21 2011


  • Classification
  • Phenotypic expression
  • Prion
  • PRNP
  • PRNP haplotype
  • PRNP mutation
  • PrPSc type

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Genetic Creutzfeldt-Jakob Disease'. Together they form a unique fingerprint.

Cite this