Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

Detalhes bibliográficos
Autor(a) principal: Schmidt, Hartmut H.‐J.
Data de Publicação: 2016
Outros Autores: Barroso, Fabio, González‐Duarte, Alejandra, Conceição, isabel, Obici, Laura, Keohane, Denis, Amass, Leslie
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: http://hdl.handle.net/10451/48729
Resumo: © 2016 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
id RCAP_a89660297869068cccf8cab7b8e997d6
oai_identifier_str oai:repositorio.ulisboa.pt:10451/48729
network_acronym_str RCAP
network_name_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository_id_str https://opendoar.ac.uk/repository/7160
spelling Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathyAmyloidosisCarrierFamilial amyloid polyneuropathyPredictive genetic testingTransthyretin© 2016 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, severe, and irreversible, adult-onset, hereditary disorder caused by autosomal-dominant mutations in the TTR gene that increase the intrinsic propensity of transthyretin protein to misfold and deposit systemically as insoluble amyloid fibrils in nerve tissues, the heart, and other organs. TTR-FAP is characterized by relentless, progressively debilitating polyneuropathy, and leads to death, on average, within 10 years of symptom onset without treatment. With increased availability of disease-modifying treatment options for a wider spectrum of patients with TTR-FAP, timely detection of the disease may offer substantial clinical benefits. This review discusses mutation-specific predictive genetic testing in first-degree relatives of index patients diagnosed with TTR-FAP and the structured clinical follow-up of asymptomatic gene carriers for prompt diagnosis and early therapeutic intervention before accumulation of substantial damage.John Wiley & Sons, Inc.Repositório da Universidade de LisboaSchmidt, Hartmut H.‐J.Barroso, FabioGonzález‐Duarte, AlejandraConceição, isabelObici, LauraKeohane, DenisAmass, Leslie2021-06-23T16:56:45Z20162016-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/48729engMuscle Nerve. 2016 Sep;54(3):353-3600148-639X10.1002/mus.252101097-4598info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-17T14:35:18Zoai:repositorio.ulisboa.pt:10451/48729Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T03:16:26.870010Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy
title Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy
spellingShingle Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy
Schmidt, Hartmut H.‐J.
Amyloidosis
Carrier
Familial amyloid polyneuropathy
Predictive genetic testing
Transthyretin
title_short Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy
title_full Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy
title_fullStr Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy
title_full_unstemmed Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy
title_sort Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy
author Schmidt, Hartmut H.‐J.
author_facet Schmidt, Hartmut H.‐J.
Barroso, Fabio
González‐Duarte, Alejandra
Conceição, isabel
Obici, Laura
Keohane, Denis
Amass, Leslie
author_role author
author2 Barroso, Fabio
González‐Duarte, Alejandra
Conceição, isabel
Obici, Laura
Keohane, Denis
Amass, Leslie
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Schmidt, Hartmut H.‐J.
Barroso, Fabio
González‐Duarte, Alejandra
Conceição, isabel
Obici, Laura
Keohane, Denis
Amass, Leslie
dc.subject.por.fl_str_mv Amyloidosis
Carrier
Familial amyloid polyneuropathy
Predictive genetic testing
Transthyretin
topic Amyloidosis
Carrier
Familial amyloid polyneuropathy
Predictive genetic testing
Transthyretin
description © 2016 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
publishDate 2016
dc.date.none.fl_str_mv 2016
2016-01-01T00:00:00Z
2021-06-23T16:56:45Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/48729
url http://hdl.handle.net/10451/48729
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Muscle Nerve. 2016 Sep;54(3):353-360
0148-639X
10.1002/mus.25210
1097-4598
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons, Inc.
publisher.none.fl_str_mv John Wiley & Sons, Inc.
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
_version_ 1833601646953758720

Registros relacionados