Language impairment in the genetic forms of behavioural variant frontotemporal dementia
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10451/55658 |
Resumo: | © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
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Language impairment in the genetic forms of behavioural variant frontotemporal dementiaC9orf72Frontotemporal dementiaGeneticsLanguageProgranulinTau© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.Background: Behavioural variant fronto-temporal dementia (bvFTD) is characterised by a progressive change in personality in association with atrophy of the frontal and temporal lobes. Whilst language impairment has been described in people with bvFTD, little is currently known about the extent or type of linguistic difficulties that occur, particularly in the genetic forms. Methods: Participants with genetic bvFTD along with healthy controls were recruited from the international multicentre Genetic FTD Initiative (GENFI). Linguistic symptoms were assessed using items from the Progressive Aphasia Severity Scale (PASS). Additionally, participants undertook the Boston Naming Test (BNT), modified Camel and Cactus Test (mCCT) and a category fluency test. Participants underwent a 3T volumetric T1-weighted MRI, with language network regional brain volumes measured and compared between the genetic groups and controls. Results: 76% of the genetic bvFTD cohort had impairment in at least one language symptom: 83% C9orf72, 80% MAPT and 56% GRN mutation carriers. All three genetic groups had significantly impaired functional communication, decreased fluency, and impaired sentence comprehension. C9orf72 mutation carriers also had significantly impaired articulation and word retrieval as well as dysgraphia whilst the MAPT mutation group also had impaired word retrieval and single word comprehension. All three groups had difficulties with naming, semantic knowledge and verbal fluency. Atrophy in key left perisylvian language regions differed between the groups, with generalised involvement in the C9orf72 group and more focal temporal and insula involvement in the other groups. Correlates of language symptoms and test scores also differed between the groups. Conclusions: Language deficits exist in a substantial proportion of people with familial bvFTD across all three genetic groups. Significant atrophy is seen in the dominant perisylvian language areas and correlates with language impairments within each of the genetic groups. Improved understanding of the language phenotype in the main genetic bvFTD subtypes will be helpful in future studies, particularly in clinical trials where accurate stratification and monitoring of disease progression is required.Springer NatureRepositório da Universidade de LisboaSamra, KiranMacDougall, Amy M.Bouzigues, ArabellaBocchetta, MartinaCash, David M.Greaves, Caroline V.Convery, Rhian S.van Swieten, John C.Seelaar, HarroJiskoot, LizeMoreno, FerminGabilondo, AlazneGorostidi, AnaVillanua, JorgeCañada, MartaTainta, MikelZulaica, MirenBarandiaran, MyriamAlves, PatriciaBender, BenjaminWilke, CarloSanchez-Valle, RaquelGraf, LisaVogels, AnnickVandenbulcke, MathieuVan Damme, PhilipBruffaerts, RosePoesen, KoenRosa-Neto, PedroGauthier, SergeCamuzat, AgnèsBrice, AlexisLaforce, RobertBertrand, AnneFunkiewiez, AurélieRinaldi, DaisySaracino, DarioColliot, OlivierSayah, SabrinaPrix, CatharinaWlasich, ElisabethWagemann, OliviaLoosli, SandraGraff, CarolineSchönecker, SonjaHoegen, TobiasLombardi, JolinaAnderl-Straub, SarahRollin, AdelineKuchcinski, GregoryBertoux, MaximeLebouvier, ThibaudDeramecourt, VincentSantiago, BeatrizMasellis, MarioDuro, DianaLeitão, Maria JoãoAlmeida, Maria RosarioTábuas-Pereira, MiguelAfonso, SóniaTartaglia, Maria CarmelaRowe, James B.Borroni, BarbaraFinger, ElizabethSynofzik, MatthisGalimberti, DanielaVandenberghe, RikDe Mendonça, AlexandreButler, Christopher R.Gerhard, AlexanderDucharme, SimonLe Ber, IsabelleTiraboschi, PietroSantana, IsabelPasquier, FlorenceLevin, JohannesOtto, MarkusSorbi, SandroRohrer, Jonathan D.Russell, Lucy L.Nelson, AnnabelThomas, David L.Todd, EmilyBenotmane, HanyaNicholas, JenniferShafei, RachelleTimberlake, CarolynCope, ThomasRittman, TimothyBenussi, AlbertoPremi, EnricoGasparotti, RobertoArchetti, SilvanaGazzina, StefanoCantoni, ValentinaArighi, AndreaFenoglio, ChiaraScarpini, ElioFumagalli, GiorgioBorracci, VittoriaRossi, GiacominaGiaccone, GiorgioDi Fede, GiuseppeCaroppo, PaolaTiraboschi, PietroPrioni, SaraRedaelli, VeronicaTang-Wai, DavidRogaeva, EkaterinaCastelo-Branco, MiguelFreedman, MorrisKeren, RonBlack, SandraMitchell, SaraShoesmith, ChristenBartha, RobartRademakers, RosaPoos, JackiePapma, Janne M.Giannini, Luciavan Minkelen, RickPijnenburg, YolandeNacmias, BenedettaFerrari, CamillaPolito, CristinaLombardi, GemmaBessi, ValentinaVeldsman, MicheleAndersson, ChristinThonberg, HakanÖijerstedt, LinnJelic, VesnaThompson, PaulLangheinrich, TobiasLladó, AlbertAntonell, AnnaOlives, JaumeBalasa, MirceaBargalló, NuriaBorrego-Ecija, SergiVerdelho, AnaMaruta, CarolinaFerreira, Catarina B.Miltenberger-Miltenyi, GabrielSimões Do Couto, Frederico2023-01-05T12:48:42Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/55658engJ Neurol. 2022 Dec 200340-535410.1007/s00415-022-11512-11432-1459info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:02:31Zoai:repositorio.ul.pt:10451/55658Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:06:09.845978Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Language impairment in the genetic forms of behavioural variant frontotemporal dementia |
title |
Language impairment in the genetic forms of behavioural variant frontotemporal dementia |
spellingShingle |
Language impairment in the genetic forms of behavioural variant frontotemporal dementia Samra, Kiran C9orf72 Frontotemporal dementia Genetics Language Progranulin Tau |
title_short |
Language impairment in the genetic forms of behavioural variant frontotemporal dementia |
title_full |
Language impairment in the genetic forms of behavioural variant frontotemporal dementia |
title_fullStr |
Language impairment in the genetic forms of behavioural variant frontotemporal dementia |
title_full_unstemmed |
Language impairment in the genetic forms of behavioural variant frontotemporal dementia |
title_sort |
Language impairment in the genetic forms of behavioural variant frontotemporal dementia |
author |
Samra, Kiran |
author_facet |
Samra, Kiran MacDougall, Amy M. Bouzigues, Arabella Bocchetta, Martina Cash, David M. Greaves, Caroline V. Convery, Rhian S. van Swieten, John C. Seelaar, Harro Jiskoot, Lize Moreno, Fermin Gabilondo, Alazne Gorostidi, Ana Villanua, Jorge Cañada, Marta Tainta, Mikel Zulaica, Miren Barandiaran, Myriam Alves, Patricia Bender, Benjamin Wilke, Carlo Sanchez-Valle, Raquel Graf, Lisa Vogels, Annick Vandenbulcke, Mathieu Van Damme, Philip Bruffaerts, Rose Poesen, Koen Rosa-Neto, Pedro Gauthier, Serge Camuzat, Agnès Brice, Alexis Laforce, Robert Bertrand, Anne Funkiewiez, Aurélie Rinaldi, Daisy Saracino, Dario Colliot, Olivier Sayah, Sabrina Prix, Catharina Wlasich, Elisabeth Wagemann, Olivia Loosli, Sandra Graff, Caroline Schönecker, Sonja Hoegen, Tobias Lombardi, Jolina Anderl-Straub, Sarah Rollin, Adeline Kuchcinski, Gregory Bertoux, Maxime Lebouvier, Thibaud Deramecourt, Vincent Santiago, Beatriz Masellis, Mario Duro, Diana Leitão, Maria João Almeida, Maria Rosario Tábuas-Pereira, Miguel Afonso, Sónia Tartaglia, Maria Carmela Rowe, James B. Borroni, Barbara Finger, Elizabeth Synofzik, Matthis Galimberti, Daniela Vandenberghe, Rik De Mendonça, Alexandre Butler, Christopher R. Gerhard, Alexander Ducharme, Simon Le Ber, Isabelle Tiraboschi, Pietro Santana, Isabel Pasquier, Florence Levin, Johannes Otto, Markus Sorbi, Sandro Rohrer, Jonathan D. Russell, Lucy L. Nelson, Annabel Thomas, David L. Todd, Emily Benotmane, Hanya Nicholas, Jennifer Shafei, Rachelle Timberlake, Carolyn Cope, Thomas Rittman, Timothy Benussi, Alberto Premi, Enrico Gasparotti, Roberto Archetti, Silvana Gazzina, Stefano Cantoni, Valentina Arighi, Andrea Fenoglio, Chiara Scarpini, Elio Fumagalli, Giorgio Borracci, Vittoria Rossi, Giacomina Giaccone, Giorgio Di Fede, Giuseppe Caroppo, Paola Prioni, Sara Redaelli, Veronica Tang-Wai, David Rogaeva, Ekaterina Castelo-Branco, Miguel Freedman, Morris Keren, Ron Black, Sandra Mitchell, Sara Shoesmith, Christen Bartha, Robart Rademakers, Rosa Poos, Jackie Papma, Janne M. Giannini, Lucia van Minkelen, Rick Pijnenburg, Yolande Nacmias, Benedetta Ferrari, Camilla Polito, Cristina Lombardi, Gemma Bessi, Valentina Veldsman, Michele Andersson, Christin Thonberg, Hakan Öijerstedt, Linn Jelic, Vesna Thompson, Paul Langheinrich, Tobias Lladó, Albert Antonell, Anna Olives, Jaume Balasa, Mircea Bargalló, Nuria Borrego-Ecija, Sergi Verdelho, Ana Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Simões Do Couto, Frederico |
author_role |
author |
author2 |
MacDougall, Amy M. Bouzigues, Arabella Bocchetta, Martina Cash, David M. Greaves, Caroline V. Convery, Rhian S. van Swieten, John C. Seelaar, Harro Jiskoot, Lize Moreno, Fermin Gabilondo, Alazne Gorostidi, Ana Villanua, Jorge Cañada, Marta Tainta, Mikel Zulaica, Miren Barandiaran, Myriam Alves, Patricia Bender, Benjamin Wilke, Carlo Sanchez-Valle, Raquel Graf, Lisa Vogels, Annick Vandenbulcke, Mathieu Van Damme, Philip Bruffaerts, Rose Poesen, Koen Rosa-Neto, Pedro Gauthier, Serge Camuzat, Agnès Brice, Alexis Laforce, Robert Bertrand, Anne Funkiewiez, Aurélie Rinaldi, Daisy Saracino, Dario Colliot, Olivier Sayah, Sabrina Prix, Catharina Wlasich, Elisabeth Wagemann, Olivia Loosli, Sandra Graff, Caroline Schönecker, Sonja Hoegen, Tobias Lombardi, Jolina Anderl-Straub, Sarah Rollin, Adeline Kuchcinski, Gregory Bertoux, Maxime Lebouvier, Thibaud Deramecourt, Vincent Santiago, Beatriz Masellis, Mario Duro, Diana Leitão, Maria João Almeida, Maria Rosario Tábuas-Pereira, Miguel Afonso, Sónia Tartaglia, Maria Carmela Rowe, James B. Borroni, Barbara Finger, Elizabeth Synofzik, Matthis Galimberti, Daniela Vandenberghe, Rik De Mendonça, Alexandre Butler, Christopher R. Gerhard, Alexander Ducharme, Simon Le Ber, Isabelle Tiraboschi, Pietro Santana, Isabel Pasquier, Florence Levin, Johannes Otto, Markus Sorbi, Sandro Rohrer, Jonathan D. Russell, Lucy L. Nelson, Annabel Thomas, David L. Todd, Emily Benotmane, Hanya Nicholas, Jennifer Shafei, Rachelle Timberlake, Carolyn Cope, Thomas Rittman, Timothy Benussi, Alberto Premi, Enrico Gasparotti, Roberto Archetti, Silvana Gazzina, Stefano Cantoni, Valentina Arighi, Andrea Fenoglio, Chiara Scarpini, Elio Fumagalli, Giorgio Borracci, Vittoria Rossi, Giacomina Giaccone, Giorgio Di Fede, Giuseppe Caroppo, Paola Prioni, Sara Redaelli, Veronica Tang-Wai, David Rogaeva, Ekaterina Castelo-Branco, Miguel Freedman, Morris Keren, Ron Black, Sandra Mitchell, Sara Shoesmith, Christen Bartha, Robart Rademakers, Rosa Poos, Jackie Papma, Janne M. Giannini, Lucia van Minkelen, Rick Pijnenburg, Yolande Nacmias, Benedetta Ferrari, Camilla Polito, Cristina Lombardi, Gemma Bessi, Valentina Veldsman, Michele Andersson, Christin Thonberg, Hakan Öijerstedt, Linn Jelic, Vesna Thompson, Paul Langheinrich, Tobias Lladó, Albert Antonell, Anna Olives, Jaume Balasa, Mircea Bargalló, Nuria Borrego-Ecija, Sergi Verdelho, Ana Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Simões Do Couto, Frederico |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
dc.contributor.author.fl_str_mv |
Samra, Kiran MacDougall, Amy M. Bouzigues, Arabella Bocchetta, Martina Cash, David M. Greaves, Caroline V. Convery, Rhian S. van Swieten, John C. Seelaar, Harro Jiskoot, Lize Moreno, Fermin Gabilondo, Alazne Gorostidi, Ana Villanua, Jorge Cañada, Marta Tainta, Mikel Zulaica, Miren Barandiaran, Myriam Alves, Patricia Bender, Benjamin Wilke, Carlo Sanchez-Valle, Raquel Graf, Lisa Vogels, Annick Vandenbulcke, Mathieu Van Damme, Philip Bruffaerts, Rose Poesen, Koen Rosa-Neto, Pedro Gauthier, Serge Camuzat, Agnès Brice, Alexis Laforce, Robert Bertrand, Anne Funkiewiez, Aurélie Rinaldi, Daisy Saracino, Dario Colliot, Olivier Sayah, Sabrina Prix, Catharina Wlasich, Elisabeth Wagemann, Olivia Loosli, Sandra Graff, Caroline Schönecker, Sonja Hoegen, Tobias Lombardi, Jolina Anderl-Straub, Sarah Rollin, Adeline Kuchcinski, Gregory Bertoux, Maxime Lebouvier, Thibaud Deramecourt, Vincent Santiago, Beatriz Masellis, Mario Duro, Diana Leitão, Maria João Almeida, Maria Rosario Tábuas-Pereira, Miguel Afonso, Sónia Tartaglia, Maria Carmela Rowe, James B. Borroni, Barbara Finger, Elizabeth Synofzik, Matthis Galimberti, Daniela Vandenberghe, Rik De Mendonça, Alexandre Butler, Christopher R. Gerhard, Alexander Ducharme, Simon Le Ber, Isabelle Tiraboschi, Pietro Santana, Isabel Pasquier, Florence Levin, Johannes Otto, Markus Sorbi, Sandro Rohrer, Jonathan D. Russell, Lucy L. Nelson, Annabel Thomas, David L. Todd, Emily Benotmane, Hanya Nicholas, Jennifer Shafei, Rachelle Timberlake, Carolyn Cope, Thomas Rittman, Timothy Benussi, Alberto Premi, Enrico Gasparotti, Roberto Archetti, Silvana Gazzina, Stefano Cantoni, Valentina Arighi, Andrea Fenoglio, Chiara Scarpini, Elio Fumagalli, Giorgio Borracci, Vittoria Rossi, Giacomina Giaccone, Giorgio Di Fede, Giuseppe Caroppo, Paola Tiraboschi, Pietro Prioni, Sara Redaelli, Veronica Tang-Wai, David Rogaeva, Ekaterina Castelo-Branco, Miguel Freedman, Morris Keren, Ron Black, Sandra Mitchell, Sara Shoesmith, Christen Bartha, Robart Rademakers, Rosa Poos, Jackie Papma, Janne M. Giannini, Lucia van Minkelen, Rick Pijnenburg, Yolande Nacmias, Benedetta Ferrari, Camilla Polito, Cristina Lombardi, Gemma Bessi, Valentina Veldsman, Michele Andersson, Christin Thonberg, Hakan Öijerstedt, Linn Jelic, Vesna Thompson, Paul Langheinrich, Tobias Lladó, Albert Antonell, Anna Olives, Jaume Balasa, Mircea Bargalló, Nuria Borrego-Ecija, Sergi Verdelho, Ana Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Simões Do Couto, Frederico |
dc.subject.por.fl_str_mv |
C9orf72 Frontotemporal dementia Genetics Language Progranulin Tau |
topic |
C9orf72 Frontotemporal dementia Genetics Language Progranulin Tau |
description |
© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022 2022-01-01T00:00:00Z 2023-01-05T12:48:42Z |
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/10451/55658 |
url |
http://hdl.handle.net/10451/55658 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
J Neurol. 2022 Dec 20 0340-5354 10.1007/s00415-022-11512-1 1432-1459 |
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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
Springer Nature |
publisher.none.fl_str_mv |
Springer Nature |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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