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Title: Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
Author: Vicente-Pascual, Mikel
Rossi, Marcello
Gámez, Josep
Lladó Plarrumaní, 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
Keywords: Enzims proteolítics
Esclerosi lateral amiotròfica
Proteolytic enzymes
Amyotrophic lateral sclerosis
Issue Date: Sep-2018
Publisher: American Neurological Association
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.
Note: Reproducció del document publicat a:
It is part of: Annals of Clinical and Translational Neurology, 2018, vol. 5, num. 10, p. 1297-1302
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ISSN: 2328-9503
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Patologia i Terapèutica Experimental)

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