Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease

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. We describe the clinical and neuropathological data of inherited early-onset prion disease caused by the rare PRNP homo...

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Bibliographic Details
Published in:	Alzheimer's research & therapy Vol. 13; no. 1; p. 176
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 18-10-2021 BioMed Central BMC
Subjects:	Alzheimer's disease Animal cognition Animals Brain Brain - diagnostic imaging Brain - metabolism Causes of Creutzfeldt-Jakob disease Dementia Experiments Family medical history Female Fluorides Gene mutations Gene PRNP Genetic aspects Gerstmann-Straussler-Scheinker Disease - genetics GSS Homozygous Hospitals Humans Medical research Medicine, Experimental Membranes Mice Mutation Mutation - genetics Neuropathology Polymorphism Prion Prion diseases Prion Diseases - genetics Prion Proteins - genetics Prions - metabolism Propagation Proteins Recombinant Proteins Transgenic animals Spain United States > US Prion Neuropathology GSS Homozygous Gene PRNP
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