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 (peer-reviewed)peer-review

Abstract / Description of output

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
Title of host publicationHandbook of Clinical Neurology
Number of pages27
Publication statusE-pub ahead of print - 7 Jun 2018

Keywords / Materials (for Non-textual outputs)

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


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