Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum

Vicente-Pascual, MikelRossi, MarcelloGámez, JosepLladó Plarrumaní, AlbertValls Solé, JosepGrau-Rivera, OriolÁvila Polo, RainieroLlorens Torres, FrancZerr, IngaFerrer, Isidro (Ferrer Abizanda)Nos, CarlosParchi, PieroSánchez del Valle Díaz, RaquelGelpi, Ellen2019-09-122019-09-122018-092328-9503https://hdl.handle.net/2445/139916We report clinico-pathological features of a 65-year-old woman and a 56-yearold man with a 5-year clinical history who had clinical and neuropathological characteristics of upper and lower motor neuron disease consistent with amyotrophic lateral sclerosis, and a frontotemporal atrophy pattern in case 2 without TDP-43 pathology. Instead, spongiform change and pathological prion protein deposits were observed in several brain regions. No prion protein gene mutations were found. Western blot analysis showed a ﬁve-band proﬁle compatible with variably protease-sensitive prionopathy. We conclude that this disease can display prolonged disease duration and clinico-pathological features within the ALS/FTLD spectrum.6 p.application/pdfengcc-by-nc-nd (c) Vicente-Pascual, Mikel et al., 2018http://creativecommons.org/licenses/by-nc-nd/3.0/esEnzims proteolíticsPatologiaEsclerosi lateral amiotròficaProteolytic enzymesPathologyAmyotrophic lateral sclerosisVariably protease-sensitive prionopathy presenting within ALS/FTD spectruminfo:eu-repo/semantics/article6894232019-09-12info:eu-repo/semantics/openAccess30349865