Description of the first Spanish case of Gerstmann-Straussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.

ABSTRACT: Gerstmann-Sträussler-Scheinker disease (GSS) is a rare neurodegenerative illness that belongs to the group of hereditary or familial Transmissible Spongiform Encephalopathies (TSE). Due to the presence of different pathogenic alterations in the prion protein (PrP) coding gene, it shows an enhanced proneness to misfolding into its pathogenic isoform, leading to prion formation and propagation. This aberrantly folded protein is able to induce its conformation to the native counterparts forming amyloid fibrils and plaques partially resistant to protease degradation and showing neurotoxic properties. PrP with A117V pathogenic variant is the second most common genetic alteration leading to GSS and despite common phenotypic and neuropathological traits can be defined for each specific variant, s

SUBMITTER: Erana H 

PROVIDER: S-EPMC9293843 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature