Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
Q2
- Autores:
-
Ogonowski, Natalia
Santamaria Garcia, Hernando
Baez, Sandra
López, Andrea
Laserna, Andres
Garcia-Cifuentes, Elkin
Ayala Ramírez, Paola
Zarante, Ignacio
Suárez-Obando, F.
Reyes Gavilan, Pablo Alexander
Kauffman, Marcelo
Cochran, Nick
Schulte, Michael
Sirkis, Daniel W.
Spina, Salvatore
Yokoyama, Jennifer S.
Miller, Bruce L.
Kosik, Kenneth S.
Matallana, Diana
Ibáñez, Agustín
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2023
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/65326
- Acceso en línea:
- https://jmg.bmj.com/content/early/2023/02/22/jmg-2022-108627
http://hdl.handle.net/10554/65326
http://dx.doi.org/10.1136/jmg-2022-108627
- Palabra clave:
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 |
| title |
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 |
| spellingShingle |
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 |
| title_short |
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 |
| title_full |
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 |
| title_fullStr |
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 |
| title_full_unstemmed |
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 |
| title_sort |
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 |
| dc.creator.fl_str_mv |
Ogonowski, Natalia Santamaria Garcia, Hernando Baez, Sandra López, Andrea Laserna, Andres Garcia-Cifuentes, Elkin Ayala Ramírez, Paola Zarante, Ignacio Suárez-Obando, F. Reyes Gavilan, Pablo Alexander Kauffman, Marcelo Cochran, Nick Schulte, Michael Sirkis, Daniel W. Spina, Salvatore Yokoyama, Jennifer S. Miller, Bruce L. Kosik, Kenneth S. Matallana, Diana Ibáñez, Agustín |
| dc.contributor.author.none.fl_str_mv |
Ogonowski, Natalia Santamaria Garcia, Hernando Baez, Sandra López, Andrea Laserna, Andres Garcia-Cifuentes, Elkin Ayala Ramírez, Paola Zarante, Ignacio Suárez-Obando, F. Reyes Gavilan, Pablo Alexander Kauffman, Marcelo Cochran, Nick Schulte, Michael Sirkis, Daniel W. Spina, Salvatore Yokoyama, Jennifer S. Miller, Bruce L. Kosik, Kenneth S. Matallana, Diana Ibáñez, 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 Genética Humana. Grupo de investigación Instituto de Genética Humana Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Envejecimiento |
| dc.contributor.javerianateacher.none.fl_str_mv |
Santamaria Garcia, Hernando Ayala Ramírez, Paola Zarante, Ignacio Suárez-Obando, F. Reyes Gavilan, Pablo Alexander Matallana, Diana |
| description |
Q2 |
| publishDate |
2023 |
| dc.date.accessioned.none.fl_str_mv |
2023-08-28T16:12:40Z |
| dc.date.available.none.fl_str_mv |
2023-08-28T16:12:40Z |
| dc.date.created.none.fl_str_mv |
2023-02-22 |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.identifier.spa.fl_str_mv |
https://jmg.bmj.com/content/early/2023/02/22/jmg-2022-108627 |
| dc.identifier.issn.spa.fl_str_mv |
0022-2593 / 1468-6244 (Electrónico) |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/65326 |
| dc.identifier.doi.spa.fl_str_mv |
http://dx.doi.org/10.1136/jmg-2022-108627 |
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instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
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https://jmg.bmj.com/content/early/2023/02/22/jmg-2022-108627 http://hdl.handle.net/10554/65326 http://dx.doi.org/10.1136/jmg-2022-108627 |
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0022-2593 / 1468-6244 (Electrónico) 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 |
11 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Journal of Medical Genetics |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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PDF |
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application/pdf |
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Colombia Estados Unidos |
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Bogotá (Colombia) San Francisco (Estados Unidos) |
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Pontificia Universidad Javeriana |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Ogonowski, NataliaSantamaria Garcia, HernandoBaez, SandraLópez, AndreaLaserna, AndresGarcia-Cifuentes, ElkinAyala Ramírez, PaolaZarante, IgnacioSuárez-Obando, F.Reyes Gavilan, Pablo AlexanderKauffman, MarceloCochran, NickSchulte, MichaelSirkis, Daniel W.Spina, SalvatoreYokoyama, Jennifer S.Miller, Bruce L.Kosik, Kenneth S.Matallana, DianaIbáñez, AgustínPontificia Universidad Javeriana. Facultad de Medicina. Departamento de Psiquiatría y Salud MentalPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de EnvejecimientoSantamaria Garcia, HernandoAyala Ramírez, PaolaZarante, IgnacioSuárez-Obando, F.Reyes Gavilan, Pablo AlexanderMatallana, DianaColombiaEstados UnidosBogotá (Colombia)San Francisco (Estados Unidos)2023-08-28T16:12:40Z2023-08-28T16:12:40Z2023-02-22https://jmg.bmj.com/content/early/2023/02/22/jmg-2022-1086270022-2593 / 1468-6244 (Electrónico)http://hdl.handle.net/10554/65326http://dx.doi.org/10.1136/jmg-2022-108627instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengFrontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2Artículo de revistahttp://purl.org/coar/resource_type/c_2df8fbb1Q2Q1Pacientes con Demencia frontotemporalBackground: The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of TREM2 has been reported only in patients with Alzheimer’s disease. Here, we report three patients with frontotemporal dementia (FTD) from three unrelated families with heterozygous p.H157Y variant of TREM2: two patients from Colombian families (study 1) and a third Mexican origin case from the USA (study 2). Methods: To determine if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study the cases with age-matched, sex-matched and education-matched groups—a healthy control group (HC) and a group with FTD with neither TREM2 mutations nor family antecedents (Ng-FTD and Ng-FTD-MND). Results: The two Colombian cases presented with early behavioural changes, greater impairments in general cognition and executive function compared with both HC and Ng-FTD groups. These patients also exhibited brain atrophy in areas characteristic of FTD. Furthermore, TREM2 cases showed increased atrophy compared with Ng-FTD in frontal, temporal, parietal, precuneus, basal ganglia, parahippocampal/hippocampal and cerebellar regions. The Mexican case presented with FTD and motor neuron disease (MND), showing grey matter reduction in basal ganglia and thalamus, and extensive TDP-43 type B pathology. Conclusion: In all TREM2 cases, multiple atrophy peaks overlapped with the maximum peaks of TREM2 gene expression in crucial brain regions including frontal, temporal, thalamic and basal ganglia areas. These results provide the first report of an FTD presentation potentially associated with the p.H157Y variant with exacerbated neurocognitive impairments.https://orcid.org/0000-0001-9422-3579https://orcid.org/0000-0002-2071-3142https://orcid.org/0000-0003-4214-0266https://orcid.org/0000-0002-0141-1149https://orcid.org/0000-0002-0729-6866https://orcid.org/0000-0001-6336-5347https://orcid.org/0000-0001-6705-7157https://orcid.org/0000-0001-6529-7077Revista Internacional - IndexadaA1Si111Journal of Medical GeneticsLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/65326/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessORIGINALFrontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.pdfFrontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.pdfArtículoapplication/pdf3322150http://repository.javeriana.edu.co/bitstream/10554/65326/1/Frontotemporal%20dementia%20presentation%20in%20patients%20with%20heterozygous%20p.H157Y%20variant%20of%20TREM2.pdf0bd971e4149d951be59b4f38778044b3MD51open accessTHUMBNAILFrontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.pdf.jpgFrontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.pdf.jpgIM Thumbnailimage/jpeg15456http://repository.javeriana.edu.co/bitstream/10554/65326/3/Frontotemporal%20dementia%20presentation%20in%20patients%20with%20heterozygous%20p.H157Y%20variant%20of%20TREM2.pdf.jpgebdddfa55d0886afd828e4f6070914a3MD53open access10554/65326oai:repository.javeriana.edu.co:10554/653262024-01-10 20:50:16.243Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |