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dc.contributor.author | de Frutos, Fernando | |
dc.contributor.author | Ochoa, Juan Pablo | |
dc.contributor.author | Gómez-González, Cristina | |
dc.contributor.author | Reyes-Leiva, David | |
dc.contributor.author | Aróstegui, Juan I | |
dc.contributor.author | Casasnovas, Carlos | |
dc.contributor.author | Barriales-Villa, Roberto | |
dc.contributor.author | Sevilla, Teresa | |
dc.contributor.author | Gonzalez-Lopez, Esther | |
dc.contributor.author | Ramil, Elvira | |
dc.contributor.author | Galan, Lucia | |
dc.contributor.author | González-Costello, Jose | |
dc.contributor.author | García-Álvarez, Ana | |
dc.contributor.author | Rojas-Garcia, Ricard | |
dc.contributor.author | Espinosa, Maria Angeles | |
dc.contributor.author | Garcia-Pavia, Pablo | |
dc.date.accessioned | 2022-11-29T13:34:55Z | |
dc.date.available | 2022-11-29T13:34:55Z | |
dc.date.issued | 2022-11-07 | |
dc.identifier.citation | Amyloid . 2022 Nov 7;1-9. doi: 10.1080/13506129.2022.2142110 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/15244 | |
dc.description.abstract | The p.Glu109Lys variant (Glu89Lys) is a rare cause of hereditary transthyretin amyloidosis (ATTRv) for which clinical spectrum remains unresolved. We sought to describe the clinical characteristics and outcomes of ATTR Glu89Lys amyloidosis and assess a potential founder effect in Spain. Patients with the p.Glu109Lys ATTRv variant from 14 families were recruited at 7 centres. Demographics, complementary tests and clinical course were analysed. Haplotype analysis was performed in 7 unrelated individuals. Thirty-eight individuals (13 probands, mean age 40.4 ± 13.1 years) were studied. After median follow-up of 5.1 years (IQR 1.7-9.6), 7 patients died and 7 required heart transplantation (median age at transplantation 50.5 years). Onset of cardiac and neurological manifestations occurred at a mean age of 48.4 and 46.8 years, respectively. Median survival from birth was 61.6 years and no individual survived beyond 65 years. Patients treated with disease-modifying therapies exhibited better prognosis (p < 0.001). Haplotype analysis revealed a common origin from an ancestor who lived ∼500 years ago in southeast Spain. Glu89Lys ATTRv is a TTR variant with a founder effect in Spain. It is associated with near complete penetrance, early onset and mixed cardiac and neurologic phenotype. Patients have poor prognosis, particularly if not treated with disease-modifying therapies. | es_ES |
dc.description.sponsorship | This study has been funded by Instituto de Salud Carlos III (ISCIII) through the projects “PI17/01941, PI18/0765 and PI20/01379” (Cofunded by European Regional Development Fund/European Social Fund “A way to make Europe”/“Investing in your future”). Fernando de Frutos receives grant support from ISCIII (CM20/00101). The CNIC is supported by the ISCIII, MCIN, the Pro-CNIC Foundation, and the Severo Ochoa Centres of Excellence program [CEX2020- 001041-S]. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Taylor & Francis | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.title | Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución 4.0 Internacional | * |
dc.identifier.pubmedID | 36343383 | es_ES |
dc.format.volume | 7 | es_ES |
dc.format.page | 1 | es_ES |
dc.identifier.doi | 10.1080/13506129.2022.2142110 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | es_ES |
dc.contributor.funder | Fundación ProCNIC | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1744-2818 | es_ES |
dc.relation.publisherversion | 10.1080/13506129.2022.2142110 | es_ES |
dc.identifier.journal | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | es_ES |
dc.repisalud.orgCNIC | CNIC::Unidades técnicas::Miocardiopatías Hereditarias | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI17/01941 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI18/0765 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI20/01379 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CM20/00101 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CEX2020- 001041-S | es_ES |