Article
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Alzheimer's research & therapy - 18 Oct 2021
Ximelis Teresa, Marín-Moreno Alba, Espinosa Juan Carlos, Eraña Hasier, Charco Jorge M, Hernández Isabel, Riveira Carmen, Alcolea Daniel, González-Roca Eva, Aldecoa Iban, Molina-Porcel Laura, Parchi Piero, Rossi Marcello, Castilla Joaquín, Ruiz-García Raquel, Gelpi Ellen, Torres Juan María, Sánchez-Valle Raquel
Abstract excerpt
BACKGROUND: More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date. METHODS: We describe the clinical and neuropathological data of inherited early-onset prion disease caused by the rare PRNP homozygous mutation R136S. In vitro PrPSc propagation studies were performed using...
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