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Language impairment in the genetic forms of behavioural variant frontotemporal dementia

2023-04Journal article Open access
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dc.contributor.authorOn Behalf of the Genetic FTD Initiative (GENFI)
dc.contributor.authorSamra, Kiran
dc.contributor.authorMacDougall, Amy M.
dc.contributor.authorBouzigues, Arabella
dc.contributor.authorBocchetta, Martina
dc.contributor.authorCash, David M.
dc.contributor.authorGreaves, Caroline V.
dc.contributor.authorConvery, Rhian S.
dc.contributor.authorvan Swieten, John C.
dc.contributor.authorSeelaar, Harro
dc.contributor.authorJiskoot, Lize
dc.contributor.authorMoreno, Fermin
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorLaforce, Robert
dc.contributor.authorGraff, Caroline
dc.contributor.authorMasellis, Mario
dc.contributor.authorTartaglia, Maria Carmela
dc.contributor.authorRowe, James B.
dc.contributor.authorBorroni, Barbara
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorde Mendonça, Alexandre
dc.contributor.authorButler, Christopher R.
dc.contributor.authorGerhard, Alexander
dc.contributor.authorDucharme, Simon
dc.contributor.authorLe Ber, Isabelle
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorSantana, Isabel
dc.contributor.authorPasquier, Florence
dc.contributor.authorLevin, Johannes
dc.contributor.authorOtto, Markus
dc.contributor.authorSorbi, Sandro
dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorRussell, Lucy L.
dc.contributor.authorNelson, Annabel
dc.contributor.authorThomas, David L.
dc.contributor.authorTodd, Emily
dc.contributor.authorBenotmane, Hanya
dc.contributor.authorNicholas, Jennifer
dc.contributor.authorShafei, Rachelle
dc.contributor.authorTimberlake, Carolyn
dc.contributor.authorCope, Thomas
dc.contributor.authorRittman, Timothy
dc.contributor.authorBenussi, Alberto
dc.contributor.authorPremi, Enrico
dc.contributor.authorGasparotti, Roberto
dc.contributor.authorArchetti, Silvana
dc.contributor.authorMaruta, Carolina
dc.contributor.authordo Couto, Frederico Simões
dc.date.accessioned2023-04-05T08:14:05Z
dc.date.available2023-04-05T08:14:05Z
dc.date.issued2023-04
dc.description.abstractBackground: 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1007/s00415-022-11512-1pt_PT
dc.identifier.eid85150489497
dc.identifier.issn0340-5354
dc.identifier.pmcPMC10025186
dc.identifier.pmid36538154
dc.identifier.urihttp://hdl.handle.net/10400.14/40765
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectC9orf72pt_PT
dc.subjectFrontotemporal dementiapt_PT
dc.subjectGeneticspt_PT
dc.subjectLanguagept_PT
dc.subjectProgranulinpt_PT
dc.subjectTaupt_PT
dc.titleLanguage impairment in the genetic forms of behavioural variant frontotemporal dementiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1988pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage1976pt_PT
oaire.citation.titleJournal of Neurologypt_PT
oaire.citation.volume270pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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