Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1

Hereditary spastic paraplegia (HSP) is a rare and genetically heterogeneous disease.1 Presenilin-1 (PSEN1) mutations are responsible for both early-onset familial Alzheimer’s disease (AD)2 and HSP.3 We present a case of spastic paraplegia (SP) and cognitive impairment due to a novel de novo pathogen...

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Autores: Muñoz, Esteban, Jodar, Meritxell, Guerrero, Jairo, Compta, Yaroslau, Perissinotti, Andrés, Álvarez Mora, María Isabel, Falgàs Martínez, Neus, Rodríguez Revenga, Laia, Sánchez del Valle Díaz, Raquel
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/216242
Acesso em linha:https://hdl.handle.net/2445/216242
Access Level:acceso abierto
Palavra-chave:Malaltia d'Alzheimer
Paraplegia
Malalties hereditàries
Mutació (Biologia)
Genètica
Alzheimer's disease
Genetic diseases
Mutation (Biology)
Genetics
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spelling Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1Muñoz, EstebanJodar, MeritxellGuerrero, JairoCompta, YaroslauPerissinotti, AndrésÁlvarez Mora, María IsabelFalgàs Martínez, NeusRodríguez Revenga, LaiaSánchez del Valle Díaz, RaquelMalaltia d'AlzheimerParaplegiaMalalties hereditàriesMutació (Biologia)GenèticaAlzheimer's diseaseParaplegiaGenetic diseasesMutation (Biology)GeneticsHereditary spastic paraplegia (HSP) is a rare and genetically heterogeneous disease.1 Presenilin-1 (PSEN1) mutations are responsible for both early-onset familial Alzheimer’s disease (AD)2 and HSP.3 We present a case of spastic paraplegia (SP) and cognitive impairment due to a novel de novo pathogenic variant in PSEN1.John Wiley & Sons2024202420222024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion3 p.application/pdfhttps://hdl.handle.net/2445/216242Articles publicats en revistes (Medicina)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1002/mdc3.13588Movement Disorders Clinical Practice, 2022, vol. 10, num.1, p. 148-150https://doi.org/10.1002/mdc3.13588cc-by-nc-nd (c) Muñoz, Esteban et al., 2022http://creativecommons.org/licenses/by-nc-nd/4.0info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2162422026-05-29T05:05:01Z
dc.title.none.fl_str_mv Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
title Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
spellingShingle Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
Muñoz, Esteban
Malaltia d'Alzheimer
Paraplegia
Malalties hereditàries
Mutació (Biologia)
Genètica
Alzheimer's disease
Paraplegia
Genetic diseases
Mutation (Biology)
Genetics
title_short Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
title_full Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
title_fullStr Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
title_full_unstemmed Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
title_sort Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
dc.creator.none.fl_str_mv Muñoz, Esteban
Jodar, Meritxell
Guerrero, Jairo
Compta, Yaroslau
Perissinotti, Andrés
Álvarez Mora, María Isabel
Falgàs Martínez, Neus
Rodríguez Revenga, Laia
Sánchez del Valle Díaz, Raquel
author Muñoz, Esteban
author_facet Muñoz, Esteban
Jodar, Meritxell
Guerrero, Jairo
Compta, Yaroslau
Perissinotti, Andrés
Álvarez Mora, María Isabel
Falgàs Martínez, Neus
Rodríguez Revenga, Laia
Sánchez del Valle Díaz, Raquel
author_role author
author2 Jodar, Meritxell
Guerrero, Jairo
Compta, Yaroslau
Perissinotti, Andrés
Álvarez Mora, María Isabel
Falgàs Martínez, Neus
Rodríguez Revenga, Laia
Sánchez del Valle Díaz, Raquel
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Malaltia d'Alzheimer
Paraplegia
Malalties hereditàries
Mutació (Biologia)
Genètica
Alzheimer's disease
Paraplegia
Genetic diseases
Mutation (Biology)
Genetics
topic Malaltia d'Alzheimer
Paraplegia
Malalties hereditàries
Mutació (Biologia)
Genètica
Alzheimer's disease
Paraplegia
Genetic diseases
Mutation (Biology)
Genetics
description Hereditary spastic paraplegia (HSP) is a rare and genetically heterogeneous disease.1 Presenilin-1 (PSEN1) mutations are responsible for both early-onset familial Alzheimer’s disease (AD)2 and HSP.3 We present a case of spastic paraplegia (SP) and cognitive impairment due to a novel de novo pathogenic variant in PSEN1.
publishDate 2022
dc.date.none.fl_str_mv 2022
2024
2024
2024
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://hdl.handle.net/2445/216242
url https://hdl.handle.net/2445/216242
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/mdc3.13588
Movement Disorders Clinical Practice, 2022, vol. 10, num.1, p. 148-150
https://doi.org/10.1002/mdc3.13588
dc.rights.none.fl_str_mv cc-by-nc-nd (c) Muñoz, Esteban et al., 2022
http://creativecommons.org/licenses/by-nc-nd/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by-nc-nd (c) Muñoz, Esteban et al., 2022
http://creativecommons.org/licenses/by-nc-nd/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 3 p.
application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons
publisher.none.fl_str_mv John Wiley & Sons
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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