Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum

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Title:	Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
Author:	Vicente-Pascual, Mikel; Rossi, Marcello; Gámez, Josep; Lladó, Albert; Valls Solé, Josep; Grau-Rivera, Oriol; Ávila Polo, Rainiero; Llorens Torres, Franc; Zerr, Inga; Ferrer, Isidro (Ferrer Abizanda); Nos, Carlos; Parchi, Piero; Sánchez del Valle Díaz, Raquel; Gelpi, Ellen
Other authors:	Universitat de Barcelona
Abstract:	We 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.
Subject(s):	-Enzims proteolítics -Patologia -Esclerosi lateral amiotròfica -Proteolytic enzymes -Pathology -Amyotrophic lateral sclerosis
Rights:	cc-by-nc-nd (c) Vicente-Pascual, Mikel et al., 2018 http://creativecommons.org/licenses/by-nc-nd/3.0/es
Document type:	Article Article - Published version
Published by:	American Neurological Association
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