Article
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
Molecular biology reports - 1 Nov 2023
Salemi Michele, Mandarà Luana G M, Salluzzo Maria Grazia, Schillaci Francesca A, Castiglione Roberto, Cordella Angela, Iorio Roberta, Perrotta Concetta Simona, Ferri Raffaele, Romano Corrado
Abstract excerpt
BACKGROUND: Gerstmann Sträussler Scheinker (GSS) is an inherited, invariably fatal prion disease. Like other human prion diseases, GSS is caused by missense mutations in the prion protein (PrP) gene (PRNP), and by the formation and overtime accumulation of the misfolded, pathogenic scrapie PrP (PrPSc). The first mutation identified in the PRNP gene, and the one blamed as the main cause of the disease, is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.