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Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

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dc.contributor.author Gentile, Luca
dc.contributor.author Diemberger, Igor
dc.contributor.author Plante-Bordeneuve, Violaine
dc.contributor.author Mazzeo, Anna
dc.contributor.author Dori, Amir
dc.contributor.author Luigetti, Marco
dc.contributor.author Di Paolantonio, Andrea
dc.contributor.author Dispenzieri, Angela
dc.contributor.author Grogan, Martha
dc.contributor.author Waddington Cruz, Marcia
dc.contributor.author Adams, David
dc.contributor.author Inamo, Jocelyn
dc.contributor.author Kristen, Arnt V.
dc.contributor.author Cirami, Calogero Lino
dc.contributor.author Chapman, Doug
dc.contributor.author Gupta, Pritam
dc.contributor.author Glass, Oliver
dc.contributor.author Amass, Leslie
dc.contributor.author Barroso, Fabio Adrián
dc.date.accessioned 2024-01-29T12:37:43Z
dc.date.available 2024-01-29T12:37:43Z
dc.date.issued 2024-01-19
dc.identifier.citation Gentile L, Diemberger I, Plante-Bordeneuve V, Mazzeo A, Dori A, Luigetti M, Di Paolantonio A, Dispenzieri A, Grogan M, Waddington Cruz M, Adams D, Inamo J, Kristen AV, Lino Cirami C, Chapman D, Gupta P, Glass O, Amass L. Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS). PLoS One. 2024 Jan 19;19(1):e0292435. doi: 10.1371/journal.pone.0292435. es_ES
dc.identifier.uri https://doi.org/10.1371/journal.pone.0292435
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/961
dc.description.abstract Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multi-systemic disease with wild-type (ATTRwt) and hereditary (ATTRv) forms. Over 130 variants associated with ATTRv amyloidosis have been identified, although little is known about the majority of these genotypes. This analysis examined phenotypic characteristics of symptomatic patients with ATTRv amyloidosis enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) with four less frequently reported pathogenic genotypes: F64L (c.250T>C, p.F84L), I68L (c.262A>T, p.I88L), I107V (c.379A>G; p.I127V), and S77Y (c.290C>A; p.S97Y). THAOS is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both ATTRwt and ATTRv amyloidosis. This analysis describes the baseline demographic and clinical characteristics of untreated symptomatic patients with the F64L, I68L, I107V, or S77Y genotypes at enrollment in THAOS (data cutoff date: January 4, 2022). There were 141 symptomatic patients with F64L (n = 46), I68L (n = 45), I107V (n = 21), or S77Y (n = 29) variants at the data cutoff. Most patients were male and median age at enrollment was in the sixth decade for S77Y patients and the seventh decade for the others. A predominantly neurologic phenotype was associated with F64L, I107V, and S77Y genotypes, whereas patients with the I68L genotype presented with more pronounced cardiac involvement. However, a mixed phenotype was also reported in a considerable proportion of patients in each variant subgroup. This analysis from THAOS represents the largest study of ATTRv symptomatic patients with the F64L, I68L, I107V, and S77Y genotypes. These data add to the limited knowledge on the clinical profile of patients with specific ATTRv variants and emphasize the importance of comprehensive assessment of all patients. es_ES
dc.language.iso eng es_ES
dc.publisher Public Library of Science es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.subject Amyloidosis es_ES
dc.subject Amiloidosis es_ES
dc.title Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS) es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Gentile, Luca. Universidad de Mesina; Italia.
dc.description.fil Fil: Diemberger, Igor. University of Bologna; Italia.
dc.description.fil Fil: Plante-Bordeneuve, Violaine. Universidad Paris-Est Créteil; Francia.
dc.description.fil Fil: Mazzeo, Anna. Universidad de Mesina; Italia.
dc.description.fil Fil: Dori, Amir. Tel-Aviv University; Israel.
dc.description.fil Fil: Luigetti, Marco. Universita Cattolica del Sacro Cuore; Italia.
dc.description.fil Fil: Di Paolantonio, Andrea. Universita Cattolica del Sacro Cuore; Italia.
dc.description.fil Fil: Dispenzieri, Angela. Mayo Clinic; Estados Unidos.
dc.description.fil Fil: Grogan, Martha. Mayo Clinic; Estados Unidos.
dc.description.fil Fil: Waddington Cruz, Marcia. Federal University of Rio de Janeiro; Brasil.
dc.description.fil Fil: Adams, David. University Paris-Saclay; Francia.
dc.description.fil Fil: Inamo, Jocelyn. CHU de Fort de France; Francia.
dc.description.fil Fil: Kristen, Arnt V. Medical University of Heidelberg; Alemania.
dc.description.fil Fil: Cirami, Calogero Lino. Azienda Ospedaliero Universitaria Careggi; Italia.
dc.description.fil Fil: Chapman, Doug. Pfizer Inc.; Estados Unidos.
dc.description.fil Fil: Gupta, Pritam. Pfizer Inc.; Estados Unidos.
dc.description.fil Fil: Glass, Oliver. Pfizer Inc.; Estados Unidos.
dc.description.fil Fil: Amass, Leslie. Pfizer Inc.; Estados Unidos.
dc.description.fil Fil: Barroso, Fabio Adrián. Fleni. Departamento de Neurología. Sección de Enfermedades Neuromusculares; Argentina.
dc.relation.ispartofVOLUME 19
dc.relation.ispartofNUMBER 1
dc.relation.ispartofPAGINATION e0292435
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY San Francisco
dc.relation.ispartofTITLE PloS one
dc.relation.ispartofISSN 1932-6203
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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