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"@id": "https://doi.org/10.6084/m9.figshare.21514230.v1",
"url": "https://tandf.figshare.com/articles/journal_contribution/Phenotype_and_clinical_outcomes_of_Glu89Lys_hereditary_transthyretin_amyloidosis_a_new_endemic_variant_in_Spain/21514230/1",
"additionalType": "Journal contribution",
"name": "Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain",
"author": [
{
"name": "Fernando de Frutos",
"givenName": "Fernando",
"familyName": "de Frutos"
},
{
"name": "Juan Pablo Ochoa",
"givenName": "Juan Pablo",
"familyName": "Ochoa"
},
{
"name": "Cristina Gómez-González",
"givenName": "Cristina",
"familyName": "Gómez-González"
},
{
"name": "David Reyes-Leiva",
"givenName": "David",
"familyName": "Reyes-Leiva"
},
{
"name": "Juan I. Aróstegui",
"givenName": "Juan I.",
"familyName": "Aróstegui"
},
{
"name": "Carlos Casasnovas",
"givenName": "Carlos",
"familyName": "Casasnovas",
"affiliation": [
{
"@type": "Organization",
"@id": "https://ror.org/00epner96",
"name": "Bellvitge University Hospital"
},
{
"@type": "Organization",
"@id": "https://ror.org/0008xqs48",
"name": "Institut d'Investigació Biomédica de Bellvitge"
},
{
"@type": "Organization",
"@id": "https://ror.org/01ygm5w19",
"name": "Centro de Investigación Biomédica en Red de Enfermedades Raras"
}
]
},
{
"name": "Roberto Barriales-Villa",
"givenName": "Roberto",
"familyName": "Barriales-Villa"
},
{
"name": "Teresa Sevilla",
"givenName": "Teresa",
"familyName": "Sevilla"
},
{
"name": "Esther Gonzalez-Lopez",
"givenName": "Esther",
"familyName": "Gonzalez-Lopez"
},
{
"name": "Elvira Ramil",
"givenName": "Elvira",
"familyName": "Ramil"
},
{
"name": "Lucia Galan",
"givenName": "Lucia",
"familyName": "Galan"
},
{
"name": "Jose González-Costello",
"givenName": "Jose",
"familyName": "González-Costello"
},
{
"name": "Ana García-Álvarez",
"givenName": "Ana",
"familyName": "García-Álvarez"
},
{
"name": "Ricard Rojas-Garcia",
"givenName": "Ricard",
"familyName": "Rojas-Garcia"
},
{
"name": "Maria Angeles Espinosa",
"givenName": "Maria Angeles",
"familyName": "Espinosa"
},
{
"name": "Pablo Garcia-Pavia",
"givenName": "Pablo",
"familyName": "Garcia-Pavia"
}
],
"description": "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.",
"license": "https://creativecommons.org/licenses/by/4.0/legalcode",
"keywords": "Medicine, Biotechnology, Sociology, FOS: Sociology, Biological Sciences not elsewhere classified, Science Policy, Virology",
"contentSize": "238273 Bytes",
"dateCreated": "2022-11-07",
"datePublished": "2022",
"dateModified": "2023-07-14",
"sameAs": {
"@id": "https://doi.org/10.6084/m9.figshare.21514230",
"@type": "CreativeWork"
},
"@reverse": {
"isBasedOn": {
"@id": "https://doi.org/10.1080/13506129.2022.2142110",
"@type": "ScholarlyArticle"
}
},
"schemaVersion": "http://datacite.org/schema/kernel-4",
"publisher": {
"@type": "Organization",
"name": "Taylor & Francis"
},
"provider": {
"@type": "Organization",
"name": "datacite"
}
}