Distinctive properties of the prion protein in the brain and retina in the amyloidosis associated with the PRNP F198S mutation.

doi:10.1007/s00401-026-03060-z

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Article

Distinctive properties of the prion protein in the brain and retina in the amyloidosis associated with the PRNP F198S mutation.

Acta neuropathologica - 26 Aug 2026

Ghetti Bernardino, Glazier Bradley S, Fiorini Michele, Newell Kathy L, Bonnin José M, Murrell Jill R, Varner Leah Rie, Jacobsen Max, Striebel James F, Priola Suzette A, Zanusso Gianluigi

Abstract excerpt

Prion protein (PrP) deposits in the form of diffuse and cored plaques occur in most gray matter areas of the brain of individuals affected by Gerstmann-Sträussler-Scheinker disease (GSS) associated with the F198S mutation in PRNP; however, the PrP deposits in the retina have not been characterized. Furthermore, a comparative analysis of PrP deposits occurring in the brain and in the retina in GSS has not been...

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PMID: 42645584
DOI: 10.1007/s00401-026-03060-z
PMCID: PMC13518383

Genes

GSS
PRNP

Variants

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