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Journal Articles Journal of Neurology Year : 2022

Language impairment in the genetic forms of behavioural variant frontotemporal dementia

Kiran Samra , Amy M Macdougall , Arabella Bouzigues , Martina Bocchetta , David M Cash , Caroline V Greaves , Rhian S Convery , John C van Swieten , Harro Seelaar , Lize Jiskoot , Fermin Moreno , Raquel Sanchez-Valle , Robert Laforce , Caroline Graff , Mario Masellis , Maria Carmela Tartaglia , James B Rowe , Barbara Borroni , Elizabeth Finger , Matthis Synofzik , Daniela Galimberti , Rik Vandenberghe , Alexandre de Mendonça , Christopher R Butler , Alexander Gerhard , Simon Ducharme , Isabelle Le Ber (1, 2) , Pietro Tiraboschi , Isabel Santana , Florence Pasquier (3, 4) , Johannes Levin , Markus Otto , Sandro Sorbi , Jonathan D Rohrer , Lucy L Russell , Annabel Nelson , David L Thomas , Emily Todd , Hanya Benotmane , Jennifer Nicholas , Rachelle Shafei , Carolyn Timberlake , Thomas Cope , Timothy Rittman , Alberto Benussi , Enrico Premi , Roberto Gasparotti , Silvana Archetti , Stefano Gazzina , Valentina Cantoni , Andrea Arighi , Chiara Fenoglio , Elio Scarpini , Giorgio Fumagalli , Vittoria Borracci , Giacomina Rossi , Giorgio Giaccone , Giuseppe Di Fede , Paola Caroppo , Pietro Tiraboschi , Sara Prioni , Veronica Redaelli , David Tang-Wai , Ekaterina Rogaeva , Miguel Castelo-Branco , Morris Freedman , Ron Keren , Sandra Black , Sara Mitchell , Christen Shoesmith , Robart Bartha , Rosa Rademakers , Jackie Poos , Janne M Papma , Lucia Giannini , Rick van Minkelen , Yolande Pijnenburg , Benedetta Nacmias , Camilla Ferrari , Cristina Polito , Gemma Lombardi , Valentina Bessi , Michele Veldsman , Christin Andersson , Hakan Thonberg , Linn Öijerstedt , Vesna Jelic , Paul Thompson , Tobias Langheinrich , Albert Lladó , Anna Antonell , Jaume Olives , Mircea Balasa , Nuria Bargalló , Sergi Borrego-Ecija , Ana Verdelho , Carolina Maruta , Catarina B Ferreira , Gabriel Miltenberger , Frederico Simões Do Couto , Alazne Gabilondo , Ana Gorostidi , Jorge Villanua , Marta Cañada , Mikel Tainta , Miren Zulaica , Myriam Barandiaran , Patricia Alves , Benjamin Bender , Carlo Wilke , Lisa Graf , Annick Vogels , Mathieu Vandenbulcke , Philip van Damme , Rose Bruffaerts , Koen Poesen , Pedro Rosa-Neto , Serge Gauthier , Agnès Camuzat , Alexis Brice , Anne Bertrand , Aurélie Funkiewiez , Daisy Rinaldi , Dario Saracino , Olivier Colliot , Sabrina Sayah , Catharina Prix , Elisabeth Wlasich , Olivia Wagemann , Sandra Loosli , Sonja Schönecker , Tobias Hoegen , Jolina Lombardi , Sarah Anderl-Straub , Adeline Rollin , Gregory Kuchcinski , Maxime Bertoux , Thibaud Lebouvier , Vincent Deramecourt , Beatriz Santiago , Diana Duro , Maria João Leitão , Maria Rosario Almeida , Miguel Tábuas-Pereira , Sónia Afonso
Kiran Samra
Amy M Macdougall
  • Function : Author
Arabella Bouzigues
  • Function : Author
Martina Bocchetta
  • Function : Author
David M Cash
  • Function : Author
Caroline V Greaves
  • Function : Author
Rhian S Convery
  • Function : Author
John C van Swieten
  • Function : Author
Harro Seelaar
  • Function : Author
Lize Jiskoot
  • Function : Author
Fermin Moreno
  • Function : Author
Raquel Sanchez-Valle
  • Function : Author
Robert Laforce
  • Function : Author
Caroline Graff
  • Function : Author
Mario Masellis
  • Function : Author
Maria Carmela Tartaglia
  • Function : Author
James B Rowe
  • Function : Author
Barbara Borroni
  • Function : Author
Elizabeth Finger
  • Function : Author
Matthis Synofzik
  • Function : Author
Daniela Galimberti
  • Function : Author
Rik Vandenberghe
  • Function : Author
Alexandre de Mendonça
  • Function : Author
Christopher R Butler
  • Function : Author
Alexander Gerhard
  • Function : Author
Simon Ducharme
  • Function : Author
Pietro Tiraboschi
  • Function : Author
Isabel Santana
  • Function : Author
Johannes Levin
  • Function : Author
Markus Otto
  • Function : Author
Sandro Sorbi
  • Function : Author
Jonathan D Rohrer
  • Function : Author
Lucy L Russell
  • Function : Author
  • PersonId : 1364153
Annabel Nelson
  • Function : Author
David L Thomas
  • Function : Author
Emily Todd
  • Function : Author
Hanya Benotmane
  • Function : Author
Jennifer Nicholas
  • Function : Author
Rachelle Shafei
  • Function : Author
Carolyn Timberlake
  • Function : Author
Thomas Cope
  • Function : Author
Timothy Rittman
  • Function : Author
Alberto Benussi
  • Function : Author
Enrico Premi
  • Function : Author
Roberto Gasparotti
  • Function : Author
Silvana Archetti
  • Function : Author
Stefano Gazzina
  • Function : Author
Valentina Cantoni
  • Function : Author
Andrea Arighi
  • Function : Author
Chiara Fenoglio
  • Function : Author
Elio Scarpini
  • Function : Author
Giorgio Fumagalli
  • Function : Author
Vittoria Borracci
  • Function : Author
Giacomina Rossi
  • Function : Author
Giorgio Giaccone
  • Function : Author
Giuseppe Di Fede
  • Function : Author
Paola Caroppo
  • Function : Author
Pietro Tiraboschi
  • Function : Author
Sara Prioni
  • Function : Author
Veronica Redaelli
  • Function : Author
David Tang-Wai
  • Function : Author
Ekaterina Rogaeva
  • Function : Author
Miguel Castelo-Branco
  • Function : Author
Morris Freedman
  • Function : Author
Ron Keren
  • Function : Author
Sandra Black
  • Function : Author
Sara Mitchell
  • Function : Author
Christen Shoesmith
  • Function : Author
Robart Bartha
  • Function : Author
Rosa Rademakers
  • Function : Author
Jackie Poos
  • Function : Author
Janne M Papma
  • Function : Author
Lucia Giannini
  • Function : Author
Rick van Minkelen
  • Function : Author
Yolande Pijnenburg
  • Function : Author
Benedetta Nacmias
  • Function : Author
Camilla Ferrari
  • Function : Author
Cristina Polito
  • Function : Author
Gemma Lombardi
  • Function : Author
Valentina Bessi
  • Function : Author
Michele Veldsman
  • Function : Author
Christin Andersson
  • Function : Author
Hakan Thonberg
  • Function : Author
Linn Öijerstedt
  • Function : Author
Vesna Jelic
  • Function : Author
Paul Thompson
  • Function : Author
Tobias Langheinrich
  • Function : Author
Albert Lladó
  • Function : Author
Anna Antonell
  • Function : Author
Jaume Olives
  • Function : Author
Mircea Balasa
  • Function : Author
Nuria Bargalló
  • Function : Author
Sergi Borrego-Ecija
  • Function : Author
Ana Verdelho
  • Function : Author
Carolina Maruta
  • Function : Author
Catarina B Ferreira
  • Function : Author
Gabriel Miltenberger
  • Function : Author
Frederico Simões Do Couto
  • Function : Author
Alazne Gabilondo
  • Function : Author
Ana Gorostidi
  • Function : Author
Jorge Villanua
  • Function : Author
Marta Cañada
  • Function : Author
Mikel Tainta
  • Function : Author
Miren Zulaica
  • Function : Author
Myriam Barandiaran
  • Function : Author
Patricia Alves
  • Function : Author
Benjamin Bender
  • Function : Author
Carlo Wilke
  • Function : Author
Lisa Graf
  • Function : Author
Annick Vogels
  • Function : Author
Mathieu Vandenbulcke
  • Function : Author
Philip van Damme
  • Function : Author
Rose Bruffaerts
  • Function : Author
Koen Poesen
  • Function : Author
Pedro Rosa-Neto
  • Function : Author
Serge Gauthier
  • Function : Author
Agnès Camuzat
  • Function : Author
Alexis Brice
  • Function : Author
Anne Bertrand
  • Function : Author
Aurélie Funkiewiez
  • Function : Author
Daisy Rinaldi
  • Function : Author
Dario Saracino
  • Function : Author
Olivier Colliot
  • Function : Author
Sabrina Sayah
  • Function : Author
Catharina Prix
  • Function : Author
Elisabeth Wlasich
  • Function : Author
Olivia Wagemann
  • Function : Author
Sandra Loosli
  • Function : Author
Sonja Schönecker
  • Function : Author
Tobias Hoegen
  • Function : Author
Jolina Lombardi
  • Function : Author
Sarah Anderl-Straub
  • Function : Author
Adeline Rollin
  • Function : Author
Gregory Kuchcinski
  • Function : Author
Maxime Bertoux
  • Function : Author
Thibaud Lebouvier
  • Function : Author
Vincent Deramecourt
  • Function : Author
Beatriz Santiago
  • Function : Author
Diana Duro
  • Function : Author
Maria João Leitão
  • Function : Author
Maria Rosario Almeida
  • Function : Author
Miguel Tábuas-Pereira
  • Function : Author
Sónia Afonso
  • Function : Author

Abstract

Abstract 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.
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Dates and versions

hal-04559329 , version 1 (25-04-2024)

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Kiran Samra, Amy M Macdougall, Arabella Bouzigues, Martina Bocchetta, David M Cash, et al.. Language impairment in the genetic forms of behavioural variant frontotemporal dementia. Journal of Neurology, 2022, 270 (4), pp.1976-1988. ⟨10.1007/s00415-022-11512-1⟩. ⟨hal-04559329⟩
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