| Autor: |
Hasier, Eraña, Beatriz, San Millán, Carlos M, Díaz-Domínguez, Jorge M, Charco, Rosa, Rodríguez, Irene, Viéitez, Arrate, Pereda, Rosa, Yañez, Mariví, Geijo, Carmen, Navarro, Guiomar, Perez de Nanclares, Susana, Teijeira, Joaquín, Castilla |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Journal of neurology. 269(8) |
| ISSN: |
1432-1459 |
| Popis: |
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, strikingly heterogeneous manifestations have been reported for inter-familial cases bearing the same pathogenic variant or even within the same family. Given the scarcity of cases and their clinical, neuropathological, and biochemical variability, it is important to characterize thoroughly each reported case to establish potential correlations between clinical, neuropathological and biochemical hallmarks that could help to define disease subtypes. With that purpose in mind, this manuscript aims to provide a detailed report of the first Spanish GSS case associated with A117V variant including clinical, genetic, neuropathological and biochemical data, which could help define in the future potential disease subtypes and thus, explain the high heterogeneity observed in patients suffering from these maladies. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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