1. Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease
- Author
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Ximelis, Teresa, Marín-Moreno, Alba, Espinosa, J. C., Eraña, H., Charco, J. M., Hernández, I., Riveira, C., Alcolea, Daniel, González-Roca, E., Aldecoa, Iban, Molina-Porcel, L., Parchi, P., Rossi, M., Castilla, Joaquín, Ruiz-García, R., Gelpi, E., Torres, J. M., Sánchez-Valle, Raquel, Universitat Autònoma de Barcelona, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundació La Marató de TV3, CSIC - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), Ximelis, Teresa, Marín-Moreno, Alba, Espinosa, Juan Carlos, Eraña, Hasier, Charco, Jorge M, 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, Ximelis, Teresa [0000-0002-9634-1496], Marín-Moreno, Alba [0000-0002-4023-6398], Espinosa, Juan Carlos [0000-0002-6719-9902], Eraña, Hasier [0000-0001-8776-4211], Charco, Jorge M [0000-0003-3476-1855], Alcolea, Daniel [0000-0002-3819-3245], González-Roca, Eva [0000-0002-1126-0321], Aldecoa, Iban [0000-0001-5774-7453], Molina-Porcel, Laura [0000-0003-4068-8578], Parchi, Piero [0000-0002-9444-9524], Rossi, Marcello [0000-0002-8125-6571], Castilla, Joaquín [0000-0002-2216-1361], Ruiz-García, Raquel [0000-0002-8403-3613], Gelpi, Ellen [0000-0003-2948-4187], Torres, Juan María [0000-0003-0443-9232], Sánchez-Valle, Raquel [0000-0001-7750-896X], Ximelis T., Marin-Moreno A., Espinosa J.C., Erana H., Charco J.M., Hernandez I., Riveira C., Alcolea D., Gonzalez-Roca E., Aldecoa I., Molina-Porcel L., Parchi P., Rossi M., Castilla J., Ruiz-Garcia R., Gelpi E., Torres J.M., and Sanchez-Valle R.
- Subjects
Proband ,Prions ,Cognitive Neuroscience ,animal diseases ,Neurosciences. Biological psychiatry. Neuropsychiatry ,Neuropathology ,Biology ,medicine.disease_cause ,Prion Protein ,Genetic analysis ,Prion Proteins ,Prion Diseases ,PRNP ,Mice ,Gene PRNP ,medicine ,Animals ,Humans ,Gerstmann-Straussler-Scheinker Disease ,GSS ,Homozygous ,RC346-429 ,Index case ,Genetics ,Mutation ,Animal ,Research ,Brain ,Homozygou ,Recombinant Protein ,Recombinant Proteins ,Prion Disease ,nervous system diseases ,Neurology ,Prion ,Protein Misfolding Cyclic Amplification ,Female ,Neurology (clinical) ,Neurology. Diseases of the nervous system ,medicine.symptom ,Myoclonus ,Human ,RC321-571 - Abstract
13 Pág. Centro de Investigación en Sanidad Animal (CISA), 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., This work was funded by the Instituto de Salud Carlos III (grant no. PI20/00448 to RSV), Spanish Ministerio de Ciencia e Innovación (grant no. PDI2019-105837RB-I00 to J.M.T. and J.C.E., and RTI2018-098515-B-I00 to J.C.), Fundació La Marató de TV3 (grant no. 201821-31 to J.C.E.), Instituto Nacional de Investigación y Tecnología Agraria y Agroalimentaria (fellowship INIA-FPI-SGIT-2015-02 to A.M.M.) and Dr Baselga funds for CJD research. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
- Published
- 2021