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Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study

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dc.contributor.authorSantamaria Garcia, Hernando
dc.contributor.authorOgonowsky, Natalia
dc.contributor.authorBaez, Sandra
dc.contributor.authorPalacio, Nicole
dc.contributor.authorReyes Gavilan, Pablo Alexander
dc.contributor.authorSchulte, Michael
dc.contributor.authorLópez, Andrea
dc.contributor.authorMatallana, Diana
dc.contributor.authorIbanez, Agustín
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Psiquiatría y Salud Mentalspa
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Envejecimiento
dc.contributor.javerianateacherSantamaria Garcia, Hernando
dc.contributor.javerianateacherReyes Gavilan, Pablo Alexander
dc.contributor.javerianateacherMatallana, Diana
dc.coverage.cityBogotá (Colombia)spa
dc.coverage.spatialColombiaspa
dc.date.accessioned2023-03-02T16:49:22Z
dc.date.available2023-03-02T16:49:22Z
dc.date.created2022-12-06
dc.description.abstractenglishBackground: Behavioral variant frontotemporal dementia (bvFTD) has been related to different genetic factors. Identifying multimodal phenotypic heterogeneity triggered by various genetic influences is critical for improving diagnosis, prognosis, and treatments. However, the specific impact of different genetic levels (mutations vs. risk variants vs. sporadic presentations) on clinical and neurocognitive phenotypes is not entirely understood, specially in patites from underrepresented regions such as Colombia. Methods: Here, in a multiple single cases study, we provide systematic comparisons regarding cognitive, neuropsychiatric, brain atrophy, and gene expression-atrophy overlap in a novel cohort of FTD patients (n = 42) from Colombia with different genetic levels, including patients with known genetic influences (G-FTD) such as those with genetic mutations (GR1) in particular genes (MAPT, TARDBP, and TREM2); patients with risk variants (GR2) in genes associated with FTD (tau Haplotypes H1 and H2 and APOE variants including ε2, ε3, ε4); and sporadic FTD patients (S-FTD (GR3)). Results: We found that patients from GR1 and GR2 exhibited earlier disease onset, pervasive cognitive impairments (cognitive screening, executive functioning, ToM), and increased brain atrophy (prefrontal areas, cingulated cortices, basal ganglia, and inferior temporal gyrus) than S-FTD patients (GR3). No differences in disease duration were observed across groups. Additionally, significant neuropsychiatric symptoms were observed in the GR1. The GR1 also presented more clinical and neurocognitive compromise than GR2 patients; these groups, however, did not display differences in disease onset or duration. APOE and tau patients showed more neuropsychiatric symptoms and primary atrophy in parietal and temporal cortices than GR1 patients. The gene-atrophy overlap analysis revealed atrophy in regions with specific genetic overexpression in all G-FTD patients. A differential family presentation did not explain the results. Conclusions: Our results support the existence of genetic levels affecting the clinical, neurocognitive, and, to a lesser extent, neuropsychiatric presentation of bvFTD in the present underrepresented sample. These results support tailored assessments characterization based on the parallels of genetic levels and neurocognitive profiles in bvFTD.spa
dc.description.comunidadPacientes con Demencia frontotemporalspa
dc.description.esciNospa
dc.description.indexingRevista Internacional - Indexadaspa
dc.description.orcidhttps://orcid.org/0000-0001-9422-3579spa
dc.description.orcidhttps://orcid.org/0000-0001-6705-7157spa
dc.description.orcidhttps://orcid.org/0000-0001-6529-7077spa
dc.description.publindexA2spa
dc.description.quartilescopusQ2spa
dc.description.quartilewosQ3spa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.identifierhttps://bmcneurol.biomedcentral.com/articles/10.1186/s12883-022-02954-1spa
dc.identifier.doihttps://doi.org/10.1186/s12883-022-02954-1spa
dc.identifier.instnameinstname:Pontificia Universidad Javerianaspa
dc.identifier.issn1471-2377spa
dc.identifier.reponamereponame:Repositorio Institucional - Pontificia Universidad Javerianaspa
dc.identifier.repourlrepourl:https://repository.javeriana.edu.cospa
dc.identifier.urihttp://hdl.handle.net/10554/63569
dc.language.isoengspa
dc.relation.citationendpage23spa
dc.relation.citationstartpage1spa
dc.relation.citationvolume22spa
dc.relation.ispartofjournalBMC Neurologyspa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2spa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subject.keywordMAPTspa
dc.subject.keywordTARDBPspa
dc.subject.keywordTREM2spa
dc.subject.keywordTau haplotypesspa
dc.subject.keywordAPOE variantsspa
dc.subject.keywordbvFTDspa
dc.subject.keywordMagnetic Resonance Imagingspa
dc.subject.keywordClinic and neurocognitive proflesspa
dc.subject.keywordGene-atrophy overlapspa
dc.subject.keywordFrontotemporal dementiaspa
dc.subject.keywordMutationsspa
dc.subject.keywordGeneticsspa
dc.subject.keywordStructural neuroimagingspa
dc.subject.keywordCognitionspa
dc.subject.keywordGene-atrophy associationspa
dc.titleNeurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases studyspa
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1spa
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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