Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia - Sorbonne Université Access content directly
Journal Articles Brain Communications Year : 2023

Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia

Kiran Samra , Amy M Macdougall , Arabella Bouzigues , Martina Bocchetta , David M Cash , Caroline V Greaves , Rhian S Convery , Chris Hardy , John C van Swieten , Harro Seelaar , Lize C Jiskoot , Fermin Moreno , Raquel Sanchez-Valle , Robert Laforce , Caroline Graff (1) , Mario Masellis , Maria Carmela Tartaglia , James B Rowe , Barbara Borroni , Elizabeth Finger , Matthis Synofzik , Daniela Galimberti , Rik Vandenberghe , Alexandre de Mendonça , Chris R Butler , Alexander Gerhard , Simon Ducharme , Isabelle Le Ber (2) , Isabel Santana , Florence Pasquier (3) , Johannes Levin , Markus Otto , Sandro Sorbi , Jason D Warren , Jonathan D Rohrer , Lucy L Russell , Sónia Afonso , Maria Rosario Almeida , Sarah Anderl-Straub , Christin Andersson , Anna Antonell , Silvana Archetti , Andrea Arighi , Mircea Balasa , Myriam Barandiaran , Nuria Bargalló , Robart Bartha , Benjamin Bender , Alberto Benussi , Maxime Bertoux , Anne Bertrand (2) , Valentina Bessi , Sandra Black , Sergi Borrego-Ecija , Jose Bras , Alexis Brice (2) , Rose Bruffaerts , Agnès Camuzat (2) , Marta Cañada , Valentina Cantoni , Paola Caroppo , Miguel Castelo-Branco , Olivier Colliot (2) , Thomas Cope , Vincent Deramecourt (4) , María De Arriba , Giuseppe Di Fede , Alina Díez , Diana Duro , Chiara Fenoglio , Camilla Ferrari , Catarina B Ferreira , Nick Fox , Morris Freedman , Giorgio Fumagalli , Aurélie Funkiewiez (2) , Institut Du Cerveau (2) , Alazne Gabilondo , Roberto Gasparotti , Serge Gauthier , Stefano Gazzina , Giorgio Giaccone , Ana Gorostidi , Rita Guerreiro , Carolin Heller , Tobias Hoegen , Begoña Indakoetxea , Vesna Jelic , Hans-Otto Karnath , Ron Keren , Gregory Kuchcinski (4) , Tobias Langheinrich , Thibaud Lebouvier (4) , Maria João Leitão , Albert Lladó , Gemma Lombardi , Sandra Loosli , Carolina Maruta , Simon Mead , Lieke Meeter , Gabriel Miltenberger , Rick Van Minkelen , Sara Mitchell , Katrina Moore , Benedetta Nacmias , Annabel Nelson , Linn Öijerstedt , Jaume Olives , Sebastien Ourselin , Alessandro Padovani , Jessica Panman , Janne M Papma , Yolande Pijnenburg , Cristina Polito , Enrico Premi , Sara Prioni , Catharina Prix , Rosa Rademakers , Veronica Redaelli , Daisy Rinaldi (2) , Tim Rittman , Ekaterina Rogaeva , Adeline Rollin (4) , Pedro Rosa-Neto , Giacomina Rossi , Martin Rossor , Beatriz Santiago , Dario Saracino (2) , Sabrina Sayah (2) , Elio Scarpini , Sonja Schönecker , Elisa Semler , Rachelle Shafei , Christen Shoesmith , Imogen Swift , Miguel Tábuas-Pereira , Mikel Tainta , Ricardo Taipa , David Tang-Wai , David L Thomas , Paul Thompson , Hakan Thonberg , Carolyn Timberlake , Pietro Tiraboschi , Emily Todd , Philip Van Damme , Mathieu Vandenbulcke , Michele Veldsman , Ana Verdelho , Jorge Villanua , Carlo Wilke , Ione Woollacott , Elisabeth Wlasich , Henrik Zetterberg , Miren Zulaica
Kiran Samra
  • Function : Author
Amy M Macdougall
  • Function : Author
Arabella Bouzigues
  • Function : Author
Martina Bocchetta
David M Cash
Caroline V Greaves
  • Function : Author
Rhian S Convery
  • Function : Author
Chris Hardy
  • Function : Author
John C van Swieten
  • Function : Author
Harro Seelaar
Lize C Jiskoot
Fermin Moreno
  • Function : Author
Raquel Sanchez-Valle
Robert Laforce
  • Function : Author
Caroline Graff
Mario Masellis
  • Function : Author
Maria Carmela Tartaglia
  • Function : Author
James B Rowe
  • Function : Author
Barbara Borroni
Elizabeth Finger
  • Function : Author
Matthis Synofzik
Daniela Galimberti
  • Function : Author
Rik Vandenberghe
Alexandre de Mendonça
  • Function : Author
Chris R Butler
  • Function : Author
Alexander Gerhard
Simon Ducharme
Isabel Santana
  • Function : Author
Florence Pasquier
Johannes Levin
  • Function : Author
Markus Otto
  • Function : Author
Sandro Sorbi
  • Function : Author
Jason D Warren
  • Function : Author
Jonathan D Rohrer
  • Function : Author
Lucy L Russell
  • Function : Author
  • PersonId : 1364153
Sónia Afonso
  • Function : Author
Maria Rosario Almeida
  • Function : Author
Sarah Anderl-Straub
  • Function : Author
Christin Andersson
  • Function : Author
Anna Antonell
  • Function : Author
Silvana Archetti
  • Function : Author
Andrea Arighi
  • Function : Author
Mircea Balasa
  • Function : Author
Myriam Barandiaran
  • Function : Author
Nuria Bargalló
  • Function : Author
Robart Bartha
  • Function : Author
Benjamin Bender
  • Function : Author
Alberto Benussi
  • Function : Author
Maxime Bertoux
  • Function : Author
Valentina Bessi
  • Function : Author
Sandra Black
  • Function : Author
Sergi Borrego-Ecija
  • Function : Author
Jose Bras
  • Function : Author
Rose Bruffaerts
  • Function : Author
Marta Cañada
  • Function : Author
Valentina Cantoni
  • Function : Author
Paola Caroppo
  • Function : Author
Miguel Castelo-Branco
  • Function : Author
Thomas Cope
  • Function : Author
María De Arriba
  • Function : Author
Giuseppe Di Fede
  • Function : Author
Alina Díez
  • Function : Author
Diana Duro
  • Function : Author
Chiara Fenoglio
  • Function : Author
Camilla Ferrari
  • Function : Author
Catarina B Ferreira
  • Function : Author
Nick Fox
  • Function : Author
Morris Freedman
  • Function : Author
Giorgio Fumagalli
  • Function : Author
Alazne Gabilondo
  • Function : Author
Roberto Gasparotti
  • Function : Author
Serge Gauthier
  • Function : Author
Stefano Gazzina
  • Function : Author
Giorgio Giaccone
  • Function : Author
Ana Gorostidi
  • Function : Author
Rita Guerreiro
  • Function : Author
Carolin Heller
  • Function : Author
Tobias Hoegen
  • Function : Author
Begoña Indakoetxea
  • Function : Author
Vesna Jelic
  • Function : Author
Hans-Otto Karnath
  • Function : Author
Ron Keren
  • Function : Author
Tobias Langheinrich
  • Function : Author
Maria João Leitão
  • Function : Author
Albert Lladó
  • Function : Author
Gemma Lombardi
  • Function : Author
Sandra Loosli
  • Function : Author
Carolina Maruta
  • Function : Author
Simon Mead
  • Function : Author
Lieke Meeter
  • Function : Author
Gabriel Miltenberger
  • Function : Author
Rick Van Minkelen
  • Function : Author
Sara Mitchell
  • Function : Author
Katrina Moore
  • Function : Author
Benedetta Nacmias
  • Function : Author
Annabel Nelson
  • Function : Author
Linn Öijerstedt
  • Function : Author
Jaume Olives
  • Function : Author
Sebastien Ourselin
  • Function : Author
Alessandro Padovani
  • Function : Author
Jessica Panman
  • Function : Author
Janne M Papma
  • Function : Author
Yolande Pijnenburg
  • Function : Author
Cristina Polito
  • Function : Author
Enrico Premi
  • Function : Author
Sara Prioni
  • Function : Author
Catharina Prix
  • Function : Author
Rosa Rademakers
  • Function : Author
Veronica Redaelli
  • Function : Author
Tim Rittman
  • Function : Author
Ekaterina Rogaeva
  • Function : Author
Pedro Rosa-Neto
  • Function : Author
Giacomina Rossi
  • Function : Author
Martin Rossor
  • Function : Author
Beatriz Santiago
  • Function : Author
Elio Scarpini
  • Function : Author
Sonja Schönecker
  • Function : Author
Elisa Semler
  • Function : Author
Rachelle Shafei
  • Function : Author
Christen Shoesmith
  • Function : Author
Imogen Swift
  • Function : Author
Miguel Tábuas-Pereira
  • Function : Author
Mikel Tainta
  • Function : Author
Ricardo Taipa
  • Function : Author
David Tang-Wai
  • Function : Author
David L Thomas
  • Function : Author
Paul Thompson
  • Function : Author
Hakan Thonberg
  • Function : Author
Carolyn Timberlake
  • Function : Author
Pietro Tiraboschi
  • Function : Author
Emily Todd
  • Function : Author
Philip Van Damme
  • Function : Author
Mathieu Vandenbulcke
  • Function : Author
Michele Veldsman
  • Function : Author
Ana Verdelho
  • Function : Author
Jorge Villanua
  • Function : Author
Carlo Wilke
  • Function : Author
Ione Woollacott
  • Function : Author
Elisabeth Wlasich
  • Function : Author
Henrik Zetterberg
  • Function : Author
Miren Zulaica
  • Function : Author

Abstract

Primary progressive aphasia is most commonly a sporadic disorder, but in some cases, it can be genetic. This study aimed to understand the clinical, cognitive and imaging phenotype of the genetic forms of primary progressive aphasia in comparison to the canonical nonfluent, semantic and logopenic subtypes seen in sporadic disease. Participants with genetic primary progressive aphasia were recruited from the international multicentre GENetic Frontotemporal dementia Initiative study and compared with healthy controls as well as a cohort of people with sporadic primary progressive aphasia. Symptoms were assessed using the GENetic Frontotemporal dementia Initiative language, behavioural, neuropsychiatric and motor scales. Participants also underwent a cognitive assessment and 3 T volumetric T1-weighted MRI. One C9orf72 (2%), 1 MAPT (6%) and 17 GRN (44%) symptomatic mutation carriers had a diagnosis of primary progressive aphasia. In the GRN cohort, 47% had a diagnosis of nonfluent variant primary progressive aphasia, and 53% had a primary progressive aphasia syndrome that did not fit diagnostic criteria for any of the three subtypes, called primary progressive aphasia-not otherwise specified here. The phenotype of the genetic nonfluent variant primary progressive aphasia group largely overlapped with that of sporadic nonfluent variant primary progressive aphasia, although the presence of an associated atypical parkinsonian syndrome was characteristic of sporadic and not genetic disease. The primary progressive aphasia -not otherwise specified group however was distinct from the sporadic subtypes with impaired grammar/syntax in the presence of relatively intact articulation, alongside other linguistic deficits. The pattern of atrophy seen on MRI in the genetic nonfluent variant primary progressive aphasia group overlapped with that of the sporadic nonfluent variant primary progressive aphasia cohort, although with more posterior cortical involvement, whilst the primary progressive aphasia-not otherwise specified group was strikingly asymmetrical with involvement particularly of the insula and dorsolateral prefrontal cortex but also atrophy of the orbitofrontal cortex and the medial temporal lobes. Whilst there are overlapping symptoms between genetic and sporadic primary progressive aphasia syndromes, there are also distinct features. Future iterations of the primary progressive aphasia consensus criteria should encompass such information with further research needed to understand the earliest features of these disorders, particularly during the prodromal period of genetic disease.
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hal-04515740 , version 1 (21-03-2024)

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Kiran Samra, Amy M Macdougall, Arabella Bouzigues, Martina Bocchetta, David M Cash, et al.. Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia. Brain Communications, 2023, 5, ⟨10.1093/braincomms/fcad036⟩. ⟨hal-04515740⟩
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