Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases

Laura Pirisinu, Michele A. Di Bari, Claudia D'Agostino, Stefano Marcon, Geraldina Riccardi, Anna Poleggi, Mark L. Cohen, Brian S. Appleby, Pierluigi Gambetti, Bernardino Ghetti, Umberto Agrimi, Romolo Nonno

Research output: Contribution to journalArticlepeer-review

38 Scopus citations

Abstract

Gerstmann-Sträussler-Scheinker disease (GSS) is an inherited neurodegenerative disorder associated with mutations in the prion protein gene and accumulation of misfolded PrP with protease-resistant fragments (PrPres) of 6-8 kDa. With the exception of a few GSS cases characterized by co-accumulation of PrPres of 21 kDa, efforts to transmit GSS to rodents have been unsuccessful. As a result, GSS subtypes exclusively associated with 6-8 kDa PrPres have often been considered as non-transmissible proteinopathies rather than true prion diseases. We show that GSS with P102L, A117V and F198S mutations transmit efficiently and produce distinct pathological phenotypes in bank voles (M. glareolus), irrespective of the presence of 21 kDa PrPres in the inoculum, demonstrating that GSS is a genuine prion disease characterized by both transmissibility and strain variation.

Original languageEnglish (US)
Article number20443
JournalScientific reports
Volume6
DOIs
StatePublished - Feb 4 2016

ASJC Scopus subject areas

  • General

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