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

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dc.contributor.authorMuñoz, Esteban
dc.contributor.authorJodar, Meritxell
dc.contributor.authorGuerrero, Jairo
dc.contributor.authorCompta, Yaroslau
dc.contributor.authorPerissinotti, Andrés
dc.contributor.authorÁlvarez Mora, María Isabel
dc.contributor.authorFalgàs Martínez, Neus
dc.contributor.authorRodríguez Revenga, Laia
dc.contributor.authorSánchez del Valle Díaz, Raquel
dc.date.accessioned2024-11-05T15:00:00Z
dc.date.available2024-11-05T15:00:00Z
dc.date.issued2022-10
dc.date.updated2024-11-05T15:00:00Z
dc.description.abstractHereditary 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.
dc.format.extent3 p.
dc.format.mimetypeapplication/pdf
dc.identifier.idgrec737355
dc.identifier.issn2330-1619
dc.identifier.pmid36699002
dc.identifier.urihttps://hdl.handle.net/2445/216242
dc.language.isoeng
dc.publisherJohn Wiley & Sons
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.1002/mdc3.13588
dc.relation.ispartofMovement Disorders Clinical Practice, 2022, vol. 10, num.1, p. 148-150
dc.relation.urihttps://doi.org/10.1002/mdc3.13588
dc.rightscc-by-nc-nd (c) Muñoz, Esteban et al., 2022
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0*
dc.sourceArticles publicats en revistes (Medicina)
dc.subject.classificationMalaltia d'Alzheimer
dc.subject.classificationParaplegia
dc.subject.classificationMalalties hereditàries
dc.subject.classificationMutació (Biologia)
dc.subject.classificationGenètica
dc.subject.otherAlzheimer's disease
dc.subject.otherParaplegia
dc.subject.otherGenetic diseases
dc.subject.otherMutation (Biology)
dc.subject.otherGenetics
dc.titleSpastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion

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