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Prion Disease


The 3 major forms of human prion disease are Creutzfeldt–Jakob disease (CJD), Gerstmann–Sträussler–Scheinker disease (GSS), and fatal familial insomnia (FFI). Ten to fifteen percent of prion disease has a genetic etiology. Inherited forms of all 3 diseases are due to mutations in the PRNP gene. The phenotype conferred by a specific mutation can be further modified by a polymorphism at codon 29. Additionally age of onset and symptom presentation cannot always be predicted by the genotype. Genetic counseling for the prion disease must address these ambiguities and the impact of a rapidly progressive rare disease on family members.


  • Genetic Testing
  • Genetic Counseling
  • Prion Protein
  • Prion Disease
  • PRNP Gene

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  • DOI: 10.1007/978-1-4899-7482-2_9
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Fig. 9.1


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Correspondence to Jill S. Goldman .

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Goldman, J.S. (2015). Prion Disease. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA.

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