Dominantly inherited prion protein cerebral amyloidoses – a modern view of Gerstmann–Sträussler–Scheinker

Bernardino Ghetti, Pedro Piccardo, Gianluigi Zanusso

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Scopus citations


Among genetically determined neurodegenerative diseases, the dominantly inherited prion protein cerebral amyloidoses are characterized by deposition of amyloid in cerebral parenchyma or blood vessels. Among them, Gerstmann–Sträussler–Scheinker disease has been the first to be described. Their clinical, neuropathologic, and molecular phenotypes are distinct from those observed in Creutzfeldt–Jakob disease (CJD) and related spongiform encephalopathies. It is not understood why specific mutations in the prion protein gene (PRNP) cause cerebral amyloidosis and others cause CJD. A significant neurobiologic event in these amyloidoses is the frequent coexistence of prion amyloid with tau neurofibrillary pathology, a phenomenon suggesting that similar pathogenetic mechanisms may be shared among different diseases in the sequence of events occurring in the cascade from amyloid formation to tau aggregation. This chapter describes the clinical, neuropathologic, and biochemical phenotypes associated with each of the PRNP mutations causing an inherited cerebral amyloidosis and emphasizes the variability of phenotypes.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Number of pages27
ISBN (Print)9780444639455
StatePublished - Jan 1 2018

Publication series

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


  • amyloid
  • neuritic plaques
  • neurofibrillary tangles
  • prion disease
  • prion protein
  • PRNP
  • spongiform encephalopathy
  • tau protein
  • transmissibility

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Ghetti, B., Piccardo, P., & Zanusso, G. (2018). Dominantly inherited prion protein cerebral amyloidoses – a modern view of Gerstmann–Sträussler–Scheinker. In Handbook of Clinical Neurology (pp. 243-269). (Handbook of Clinical Neurology; Vol. 153). Elsevier B.V..