Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum

We report clinico‐pathological features of a 65‐year‐old woman and a 56‐year‐old 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 ca...

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Autores: Vicente-Pascual, Mikel, Rossi, Marcello, Gámez, Josep, Lladó, Albert, Valls, Josep, Grau-Rivera, Oriol, Ávila Polo, Rainiero, Llorens, Franc, Zerr, Inga, Ferrer, Isidre, Nos, Carlos, Parchi, Piero, Sánchez-Valle, Raquel, Gelpí, Ellen
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Universitat de Lleida (UdL)
Repositorio:Repositori Obert UdL
OAI Identifier:oai:repositori.udl.cat:10459.1/70778
Acceso en línea:https://doi.org/10.1002/acn3.632
http://hdl.handle.net/10459.1/70778
Access Level:acceso abierto
Palabra clave:Enzims proteolítics
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repository_id_str
spelling Variably protease-sensitive prionopathy presenting within ALS/FTD spectrumVicente-Pascual, MikelRossi, MarcelloGámez, JosepLladó, AlbertValls, JosepGrau-Rivera, OriolÁvila Polo, RainieroLlorens, FrancZerr, IngaFerrer, IsidreNos, CarlosParchi, PieroSánchez-Valle, RaquelGelpí, EllenEnzims proteolíticsWe report clinico‐pathological features of a 65‐year‐old woman and a 56‐year‐old 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.This work was funded by Department of Public Health Generalitat de Catalunya grant ; Spanish “Ministerio de Economía y Competitividad, Subprograma Técnicos de Apoyo 2014” grant ; Spanish Fondo de Investigaciones Sanitarias grant FIS PI16‐01673‐FEDER; Spanish Ministry of Health ‐ Instituto Carlos III grant Miguel Servet ‐ CP16/00041; Fundació La Marató de TV3 grant 20141610.American Neurological Association2018info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://doi.org/10.1002/acn3.632http://hdl.handle.net/10459.1/70778reponame:Repositori Obert UdL instname:Universitat de Lleida (UdL)InglésReproducció del document publicat a https://doi.org/10.1002/acn3.632Annals of Clinical and Translational Neurology, 2018, vol. 5, núm. 10, p. 1297-1302cc-by-nc-nd (c) Vicente-Pascual et al., 2018info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/4.0/oai:repositori.udl.cat:10459.1/707782026-06-24T12:42:17Z
dc.title.none.fl_str_mv Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
title Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
spellingShingle Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
Vicente-Pascual, Mikel
Enzims proteolítics
title_short Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
title_full Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
title_fullStr Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
title_full_unstemmed Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
title_sort Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
dc.creator.none.fl_str_mv Vicente-Pascual, Mikel
Rossi, Marcello
Gámez, Josep
Lladó, Albert
Valls, Josep
Grau-Rivera, Oriol
Ávila Polo, Rainiero
Llorens, Franc
Zerr, Inga
Ferrer, Isidre
Nos, Carlos
Parchi, Piero
Sánchez-Valle, Raquel
Gelpí, Ellen
author Vicente-Pascual, Mikel
author_facet Vicente-Pascual, Mikel
Rossi, Marcello
Gámez, Josep
Lladó, Albert
Valls, Josep
Grau-Rivera, Oriol
Ávila Polo, Rainiero
Llorens, Franc
Zerr, Inga
Ferrer, Isidre
Nos, Carlos
Parchi, Piero
Sánchez-Valle, Raquel
Gelpí, Ellen
author_role author
author2 Rossi, Marcello
Gámez, Josep
Lladó, Albert
Valls, Josep
Grau-Rivera, Oriol
Ávila Polo, Rainiero
Llorens, Franc
Zerr, Inga
Ferrer, Isidre
Nos, Carlos
Parchi, Piero
Sánchez-Valle, Raquel
Gelpí, Ellen
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Enzims proteolítics
topic Enzims proteolítics
description We report clinico‐pathological features of a 65‐year‐old woman and a 56‐year‐old 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.
publishDate 2018
dc.date.none.fl_str_mv 2018
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://doi.org/10.1002/acn3.632
http://hdl.handle.net/10459.1/70778
url https://doi.org/10.1002/acn3.632
http://hdl.handle.net/10459.1/70778
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a https://doi.org/10.1002/acn3.632
Annals of Clinical and Translational Neurology, 2018, vol. 5, núm. 10, p. 1297-1302
dc.rights.none.fl_str_mv cc-by-nc-nd (c) Vicente-Pascual et al., 2018
info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-nd/4.0/
rights_invalid_str_mv cc-by-nc-nd (c) Vicente-Pascual et al., 2018
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv American Neurological Association
publisher.none.fl_str_mv American Neurological Association
dc.source.none.fl_str_mv reponame:Repositori Obert UdL
instname:Universitat de Lleida (UdL)
instname_str Universitat de Lleida (UdL)
reponame_str Repositori Obert UdL
collection Repositori Obert UdL
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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