Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study
Q3
- Autores:
-
Santamaria Garcia, Hernando
Ogonowsky, Natalia
Baez, Sandra
Palacio, Nicole
Reyes Gavilan, Pablo Alexander
Schulte, Michael
López, Andrea
Matallana, Diana
Ibanez, Agustín
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2022
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/63569
- Acceso en línea:
- https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-022-02954-1
http://hdl.handle.net/10554/63569
https://doi.org/10.1186/s12883-022-02954-1
- Palabra clave:
- MAPT
TARDBP
TREM2
Tau haplotypes
APOE variants
bvFTD
Magnetic Resonance Imaging
Clinic and neurocognitive profles
Gene-atrophy overlap
Frontotemporal dementia
Mutations
Genetics
Structural neuroimaging
Cognition
Gene-atrophy association
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| spellingShingle |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study MAPT TARDBP TREM2 Tau haplotypes APOE variants bvFTD Magnetic Resonance Imaging Clinic and neurocognitive profles Gene-atrophy overlap Frontotemporal dementia Mutations Genetics Structural neuroimaging Cognition Gene-atrophy association |
| title_short |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_full |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_fullStr |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_full_unstemmed |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_sort |
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| dc.creator.fl_str_mv |
Santamaria Garcia, Hernando Ogonowsky, Natalia Baez, Sandra Palacio, Nicole Reyes Gavilan, Pablo Alexander Schulte, Michael López, Andrea Matallana, Diana Ibanez, Agustín |
| dc.contributor.author.none.fl_str_mv |
Santamaria Garcia, Hernando Ogonowsky, Natalia Baez, Sandra Palacio, Nicole Reyes Gavilan, Pablo Alexander Schulte, Michael López, Andrea Matallana, Diana Ibanez, Agustín |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Psiquiatría y Salud Mental |
| dc.contributor.corporatename.none.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Envejecimiento |
| dc.contributor.javerianateacher.none.fl_str_mv |
Santamaria Garcia, Hernando Reyes Gavilan, Pablo Alexander Matallana, Diana |
| dc.subject.keyword.spa.fl_str_mv |
MAPT TARDBP TREM2 Tau haplotypes APOE variants bvFTD Magnetic Resonance Imaging Clinic and neurocognitive profles Gene-atrophy overlap Frontotemporal dementia Mutations Genetics Structural neuroimaging Cognition Gene-atrophy association |
| topic |
MAPT TARDBP TREM2 Tau haplotypes APOE variants bvFTD Magnetic Resonance Imaging Clinic and neurocognitive profles Gene-atrophy overlap Frontotemporal dementia Mutations Genetics Structural neuroimaging Cognition Gene-atrophy association |
| description |
Q3 |
| publishDate |
2022 |
| dc.date.created.none.fl_str_mv |
2022-12-06 |
| dc.date.accessioned.none.fl_str_mv |
2023-03-02T16:49:22Z |
| dc.date.available.none.fl_str_mv |
2023-03-02T16:49:22Z |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
| format |
http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.identifier.spa.fl_str_mv |
https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-022-02954-1 |
| dc.identifier.issn.spa.fl_str_mv |
1471-2377 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/63569 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1186/s12883-022-02954-1 |
| dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
| url |
https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-022-02954-1 http://hdl.handle.net/10554/63569 https://doi.org/10.1186/s12883-022-02954-1 |
| identifier_str_mv |
1471-2377 instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
1 |
| dc.relation.citationendpage.spa.fl_str_mv |
23 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
BMC Neurology |
| dc.relation.citationvolume.spa.fl_str_mv |
22 |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
| dc.rights.uri.*.fl_str_mv |
http://creativecommons.org/licenses/by-nc/4.0/ |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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PDF |
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application/pdf |
| dc.coverage.spatial.spa.fl_str_mv |
Colombia |
| dc.coverage.city.spa.fl_str_mv |
Bogotá (Colombia) |
| institution |
Pontificia Universidad Javeriana |
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Repositorio Institucional - Pontificia Universidad Javeriana |
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repositorio@javeriana.edu.co |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Santamaria Garcia, HernandoOgonowsky, NataliaBaez, SandraPalacio, NicoleReyes Gavilan, Pablo AlexanderSchulte, MichaelLópez, AndreaMatallana, DianaIbanez, AgustínPontificia Universidad Javeriana. Facultad de Medicina. Departamento de Psiquiatría y Salud MentalPontificia Universidad Javeriana. Facultad de Medicina. Instituto de EnvejecimientoSantamaria Garcia, HernandoReyes Gavilan, Pablo AlexanderMatallana, DianaColombiaBogotá (Colombia)2023-03-02T16:49:22Z2023-03-02T16:49:22Z2022-12-06https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-022-02954-11471-2377http://hdl.handle.net/10554/63569https://doi.org/10.1186/s12883-022-02954-1instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengNeurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases studyArtículo de revistahttp://purl.org/coar/resource_type/c_2df8fbb1Q3Q2Pacientes con Demencia frontotemporalBackground: 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.https://orcid.org/0000-0001-9422-3579https://orcid.org/0000-0001-6705-7157https://orcid.org/0000-0001-6529-7077Revista Internacional - IndexadaA2NoMAPTTARDBPTREM2Tau haplotypesAPOE variantsbvFTDMagnetic Resonance ImagingClinic and neurocognitive proflesGene-atrophy overlapFrontotemporal dementiaMutationsGeneticsStructural neuroimagingCognitionGene-atrophy association123BMC Neurology22ORIGINALNeurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia a multiple single cases study.pdfNeurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia a multiple single cases study.pdfArtículoapplication/pdf4239119http://repository.javeriana.edu.co/bitstream/10554/63569/1/Neurocognitive%20patterns%20across%20genetic%20levels%20in%20behavioral%20variant%20frontotemporal%20dementia%20a%20multiple%20single%20cases%20study.pdf9680155576dbd142cce1928e123d347eMD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/63569/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILNeurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia a multiple single cases study.pdf.jpgNeurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia a multiple single cases study.pdf.jpgIM Thumbnailimage/jpeg9399http://repository.javeriana.edu.co/bitstream/10554/63569/3/Neurocognitive%20patterns%20across%20genetic%20levels%20in%20behavioral%20variant%20frontotemporal%20dementia%20a%20multiple%20single%20cases%20study.pdf.jpg8906e627e7cc7e8869b4c2701b21147dMD53open access10554/63569oai:repository.javeriana.edu.co:10554/635692023-03-03 03:01:13.429Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.coTElDRU5DSUEgWSBBVVRPUklaQUNJw5NOIERFIExPUyBBVVRPUkVTIFBBUkEgUFVCTElDQVIgWSBQRVJNSVRJUiBMQSBDT05TVUxUQSBZIFVTTy4KClBhcnRlIDEuIFTDqXJtaW5vcyBkZSBsYSBsaWNlbmNpYSBnZW5lcmFsIHBhcmEgcHVibGljYWNpw7NuIGRlIG9icmFzIGVuIGVsIHJlcG9zaXRvcmlvIGluc3RpdHVjaW9uYWwKQ29tbyB0aXR1bGFyIChlcykgZGVsIGRlcmVjaG8gZGUgYXV0b3IsIGNvbmZpZXJvIChlcmltb3MpIGEgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgdW5hIGxpY2VuY2lhIG5vIGV4Y2x1c2l2YSwgbGltaXRhZGEgeSBncmF0dWl0YSBzb2JyZSBsYSBvYnJhIHF1ZSBzZSBpbnRlZ3JhcsOhIGVuIGVsIFJlcG9zaXRvcmlvIEluc3RpdHVjaW9uYWwsIHF1ZSBzZSBhanVzdGEgYSBsYXMgc2lndWllbnRlcyBjYXJhY3RlcsOtc3RpY2FzOgphKSAgICAgIEVzdGFyw6EgdmlnZW50ZSBhIHBhcnRpciBkZSBsYSBmZWNoYSBkZSBpbmNsdXNpw7NuIGVuIGVsIHJlcG9zaXRvcmlvLCBwb3IgdW4gcGxhem8gZGUgNSBhw7FvcywgcXVlIHNlcsOhbiBwcm9ycm9nYWJsZXMgaW5kZWZpbmlkYW1lbnRlIHBvciBlbCB0aWVtcG8gcXVlIGR1cmUgZWwgZGVyZWNobyBwYXRyaW1vbmlhbCBkZWwgYXV0b3IuIEVsIGF1dG9yIHBvZHLDoSBkYXIgcG9yIHRlcm1pbmFkYSBsYSBsaWNlbmNpYSBzb2xpY2l0w6FuZG9sbyBhIGxhIFVuaXZlcnNpZGFkIHBvciBlc2NyaXRvLgpiKSAgICAgIEF1dG9yaXphIGEgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgYSBwdWJsaWNhciBsYSBvYnJhIGVuIGRpZ2l0YWwsIGNvbm9jaWVuZG8gcXVlLCBkYWRvIHF1ZSBzZSBwdWJsaWNhIGVuIEludGVybmV0LCBwb3IgZXN0ZSBoZWNobyBjaXJjdWxhIGNvbiB1biBhbGNhbmNlIG11bmRpYWwuCmMpICAgICAgTG9zIGF1dG9yZXMgYWNlcHRhbiBxdWUgbGEgYXV0b3JpemFjacOzbiBzZSBoYWNlIGEgdMOtdHVsbyBncmF0dWl0bywgcG9yIGxvIHRhbnRvIHJlbnVuY2lhbiBhIHJlY2liaXIgYmVuZWZpY2lvIGFsZ3VubyBwb3IgbGEgcHVibGljYWNpw7NuLCBkaXN0cmlidWNpw7NuLCBjb211bmljYWNpw7NuIHDDumJsaWNhIHkgY3VhbHF1aWVyIG90cm8gdXNvIHF1ZSBzZSBoYWdhIGVuIGxvcyB0w6lybWlub3MgZGUgbGEgcHJlc2VudGUgbGljZW5jaWEgeSBkZSBsYSBsaWNlbmNpYSBkZSB1c28gY29uIHF1ZSBzZSBwdWJsaWNhLgpkKSAgICAgIExvcyBhdXRvcmVzIG1hbmlmaWVzdGFuIHF1ZSBzZSB0cmF0YSBkZSB1bmEgb2JyYSBvcmlnaW5hbCBzb2JyZSBsYSBxdWUgdGllbmVuIGxvcyBkZXJlY2hvcyBxdWUgYXV0b3JpemFuIHkgcXVlIHNvbiBlbGxvcyBxdWllbmVzIGFzdW1lbiB0b3RhbCByZXNwb25zYWJpbGlkYWQgcG9yIGVsIGNvbnRlbmlkbyBkZSBzdSBvYnJhIGFudGUgbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgeSBhbnRlIHRlcmNlcm9zLiBFbiB0b2RvIGNhc28gbGEgUG9udGlmaWNpYSBVbml2ZXJzaWRhZCBKYXZlcmlhbmEgc2UgY29tcHJvbWV0ZSBhIGluZGljYXIgc2llbXByZSBsYSBhdXRvcsOtYSBpbmNsdXllbmRvIGVsIG5vbWJyZSBkZWwgYXV0b3IgeSBsYSBmZWNoYSBkZSBwdWJsaWNhY2nDs24uCmUpICAgICAgQXV0b3Jpem8gKGFtb3MpIGEgbGEgVW5pdmVyc2lkYWQgcGFyYSBpbmNsdWlyIGxhIG9icmEgZW4gbG9zIMOtbmRpY2VzIHkgYnVzY2Fkb3JlcyBxdWUgZXN0aW1lbiBuZWNlc2FyaW9zIHBhcmEgcHJvbW92ZXIgc3UgZGlmdXNpw7NuLgpmKSAgICAgIEFjZXB0byAoYW1vcykgcXVlIGxhIFBvbnRpZmljaWEgVW5pdmVyc2lkYWQgSmF2ZXJpYW5hIHB1ZWRhIGNvbnZlcnRpciBlbCBkb2N1bWVudG8gYSBjdWFscXVpZXIgbWVkaW8gbyBmb3JtYXRvIHBhcmEgcHJvcMOzc2l0b3MgZGUgcHJlc2VydmFjacOzbiBkaWdpdGFsLgpnKSAgICAgIEF1dG9yaXpvIChhbW9zKSBxdWUgbGEgb2JyYSBzZWEgcHVlc3RhIGEgZGlzcG9zaWNpw7NuIGRlbCBww7pibGljbyBlbiBsb3MgdMOpcm1pbm9zIGF1dG9yaXphZG9zIGVuIGxvcyBsaXRlcmFsZXMgYW50ZXJpb3JlcyBiYWpvIGxvcyBsw61taXRlcyBkZWZpbmlkb3MgcG9yIGxhIHVuaXZlcnNpZGFkIGVuIGxhcyDigJxDb25kaWNpb25lcyBkZSB1c28gZGUgZXN0cmljdG8gY3VtcGxpbWllbnRv4oCdIGRlIGxvcyByZWN1cnNvcyBwdWJsaWNhZG9zIGVuIFJlcG9zaXRvcmlvIEluc3RpdHVjaW9uYWwgUFVKICwgY3V5byB0ZXh0byBjb21wbGV0byBzZSBwdWVkZSBjb25zdWx0YXIgZW4gaHR0cDovL3JlcG9zaXRvcnkuamF2ZXJpYW5hLmVkdS5jby8KClNJIEVMIERPQ1VNRU5UTyBTRSBCQVNBIEVOIFVOIFRSQUJBSk8gUVVFIEhBIFNJRE8gUEFUUk9DSU5BRE8gTyBBUE9ZQURPIFBPUiBVTkEgQUdFTkNJQSBPIFVOQSBPUkdBTklaQUNJw5NOLCBDT04gRVhDRVBDScOTTiBERSBMQSBQT05USUZJQ0lBIFVOSVZFUlNJREFEIEpBVkVSSUFOQSwgRUwgKExPUykgQVVUT1IoRVMpIEdBUkFOVElaQShNT1MpIFFVRSBTRSBIQSBDVU1QTElETyBDT04gTE9TIERFUkVDSE9TIFkgT0JMSUdBQ0lPTkVTIFJFUVVFUklET1MgUE9SIEVMIFJFU1BFQ1RJVk8gQ09OVFJBVE8gTyBBQ1VFUkRPLgo= |