Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia.
GRN
MAPT
c9orf72
primary progressive aphasia
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2023
2023
Historique:
received:
04
03
2022
revised:
26
08
2022
accepted:
15
02
2023
entrez:
20
3
2023
pubmed:
21
3
2023
medline:
21
3
2023
Statut:
epublish
Résumé
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
Identifiants
pubmed: 36938528
doi: 10.1093/braincomms/fcad036
pii: fcad036
pmc: PMC10019761
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcad036Investigateurs
Sónia Afonso
(S)
Maria Rosario Almeida
(MR)
Sarah Anderl-Straub
(S)
Christin Andersson
(C)
Anna Antonell
(A)
Silvana Archetti
(S)
Andrea Arighi
(A)
Mircea Balasa
(M)
Myriam Barandiaran
(M)
Nuria Bargalló
(N)
Robart Bartha
(R)
Benjamin Bender
(B)
Alberto Benussi
(A)
Maxime Bertoux
(M)
Anne Bertrand
(A)
Valentina Bessi
(V)
Sandra Black
(S)
Sergi Borrego-Ecija
(S)
Jose Bras
(J)
Alexis Brice
(A)
Rose Bruffaerts
(R)
Agnès Camuzat
(A)
Marta Cañada
(M)
Valentina Cantoni
(V)
Paola Caroppo
(P)
Miguel Castelo-Branco
(M)
Olivier Colliot
(O)
Thomas Cope
(T)
Vincent Deramecourt
(V)
María de Arriba
(M)
Giuseppe Di Fede
(GD)
Alina Díez
(A)
Diana Duro
(D)
Chiara Fenoglio
(C)
Camilla Ferrari
(C)
Catarina B Ferreira
(CB)
Nick Fox
(N)
Morris Freedman
(M)
Giorgio Fumagalli
(G)
Aurélie Funkiewiez
(A)
Institut du Cerveau
(I)
Alazne Gabilondo
(A)
Roberto Gasparotti
(R)
Serge Gauthier
(S)
Stefano Gazzina
(S)
Giorgio Giaccone
(G)
Ana Gorostidi
(A)
Rita Guerreiro
(R)
Carolin Heller
(C)
Tobias Hoegen
(T)
Begoña Indakoetxea
(B)
Vesna Jelic
(V)
Hans-Otto Karnath
(HO)
Ron Keren
(R)
Gregory Kuchcinski
(G)
Tobias Langheinrich
(T)
Thibaud Lebouvier
(T)
Maria João Leitão
(M)
Albert Lladó
(A)
Gemma Lombardi
(G)
Sandra Loosli
(S)
Carolina Maruta
(C)
Simon Mead
(S)
Lieke Meeter
(L)
Gabriel Miltenberger
(G)
Rick van Minkelen
(R)
Sara Mitchell
(S)
Katrina Moore
(K)
Benedetta Nacmias
(B)
Annabel Nelson
(A)
Linn Öijerstedt
(L)
Jaume Olives
(J)
Sebastien Ourselin
(S)
Alessandro Padovani
(A)
Jessica Panman
(J)
Janne M Papma
(JM)
Yolande Pijnenburg
(Y)
Cristina Polito
(C)
Enrico Premi
(E)
Sara Prioni
(S)
Catharina Prix
(C)
Rosa Rademakers
(R)
Veronica Redaelli
(V)
Daisy Rinaldi
(D)
Institut du Cerveau
(I)
Tim Rittman
(T)
Ekaterina Rogaeva
(E)
Adeline Rollin
(A)
Pedro Rosa-Neto
(P)
Giacomina Rossi
(G)
Martin Rossor
(M)
Beatriz Santiago
(B)
Dario Saracino
(D)
Sabrina Sayah
(S)
Elio Scarpini
(E)
Sonja Schönecker
(S)
Elisa Semler
(E)
Rachelle Shafei
(R)
Christen Shoesmith
(C)
Imogen Swift
(I)
Miguel Tábuas-Pereira
(M)
Mikel Tainta
(M)
Ricardo Taipa
(R)
David Tang-Wai
(D)
David L Thomas
(DL)
Paul Thompson
(P)
Hakan Thonberg
(H)
Carolyn Timberlake
(C)
Pietro Tiraboschi
(P)
Emily Todd
(E)
Philip Van Damme
(PV)
Mathieu Vandenbulcke
(M)
Michele Veldsman
(M)
Ana Verdelho
(A)
Jorge Villanua
(J)
Carlo Wilke
(C)
Ione Woollacott
(I)
Elisabeth Wlasich
(E)
Henrik Zetterberg
(H)
Miren Zulaica
(M)
Informations de copyright
© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.
Déclaration de conflit d'intérêts
The authors report no competing interests.
Références
Brain. 2006 Nov;129(Pt 11):3091-102
pubmed: 17003069
Eur J Neurol. 2015 May;22(5):745-52
pubmed: 25683866
Hum Mutat. 2007 Sep;28(9):846-55
pubmed: 17436289
Alzheimer Dis Assoc Disord. 2003 Apr-Jun;17(2):106-12
pubmed: 12794388
Neuroimage. 2010 Jan 1;49(1):984-93
pubmed: 19679189
J Clin Exp Neuropsychol. 2004 Oct;26(7):891-902
pubmed: 15742540
Nat Clin Pract Neurol. 2008 Aug;4(8):455-60
pubmed: 18648346
BMJ. 2013 Aug 06;347:f4827
pubmed: 23920254
Alzheimers Dement. 2020 Jan;16(1):79-90
pubmed: 31477517
Lancet Neurol. 2020 Feb;19(2):145-156
pubmed: 31810826
J Neurol Neurosurg Psychiatry. 2001 Mar;70(3):323-32
pubmed: 11181853
Neurocase. 2007 Oct;13(5):366-77
pubmed: 18781435
N Engl J Med. 2003 Oct 16;349(16):1535-42
pubmed: 14561797
J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1341-3
pubmed: 21172863
J Neurol. 2014 Mar;261(3):604-14
pubmed: 24449064
J Mol Neurosci. 2011 Nov;45(3):343-9
pubmed: 21892619
J Gerontol. 1992 May;47(3):P154-8
pubmed: 1573197
Neuroimage. 2011 Jun 1;56(3):1814-21
pubmed: 21385617
Brain. 2006 Aug;129(Pt 8):2132-47
pubmed: 16815878
Neuropsychologia. 2010 Jan;48(1):288-97
pubmed: 19766663
Neurobiol Aging. 2020 Mar;87:141.e9-141.e14
pubmed: 31837909
J Mol Neurosci. 2011 Nov;45(3):336-42
pubmed: 21887521
Neurobiol Aging. 2009 May;30(5):739-51
pubmed: 17949857
Brain Lang. 2013 Nov;127(2):121-6
pubmed: 23395096
Behav Neurol. 2012;25(4):285-9
pubmed: 22885809
Neurobiol Aging. 2018 Feb;62:191-196
pubmed: 29172163
Rev Neurol (Paris). 2013 Oct;169(10):820-4
pubmed: 24012408
Neuroimage. 2015 Jan 1;104:366-72
pubmed: 25255942
Neurology. 2011 Mar 15;76(11):1006-14
pubmed: 21325651
Aphasiology. 2014 Jan 1;28(8-9):993-1003
pubmed: 25419031
Neurology. 2013 May 14;80(20):1881-7
pubmed: 23596080
Mov Disord. 2010 Jan 30;25(2):179-188
pubmed: 20077483
Am J Geriatr Psychiatry. 2002 Jan-Feb;10(1):89-97
pubmed: 11790639
Brain. 2008 Mar;131(Pt 3):706-20
pubmed: 18234697
Parkinsonism Relat Disord. 2014 Sep;20(9):957-64
pubmed: 24998994
J Neurosci. 2010 Nov 17;30(46):15450-6
pubmed: 21084601
Neurology. 2012 May 22;78(21):1670-7
pubmed: 22573633
Arch Neurol. 2007 Jan;64(1):43-7
pubmed: 17210807
Brain. 2014 Oct;137(Pt 10):2783-95
pubmed: 25113789
Curr Opin Neurol. 2008 Dec;21(6):688-92
pubmed: 18989114
Appl Neuropsychol Adult. 2022 Jan-Feb;29(1):112-119
pubmed: 32024404
Neurology. 2021 Jul 6;97(1):e88-e102
pubmed: 33980708
Neurology. 2009 Nov 3;73(18):1451-6
pubmed: 19884572
Lancet Neurol. 2015 Mar;14(3):253-62
pubmed: 25662776
Cortex. 2012 Mar;48(3):308-16
pubmed: 21047627
Alzheimer Dis Assoc Disord. 2007 Oct-Dec;21(4):S8-S11
pubmed: 18090430
Brain. 2008 Mar;131(Pt 3):721-31
pubmed: 18192287
IEEE Trans Med Imaging. 2015 Sep;34(9):1976-88
pubmed: 25879909
Ann Neurol. 2004 Mar;55(3):335-46
pubmed: 14991811
Cortex. 2021 Dec;145:145-159
pubmed: 34717271
Front Neurosci. 2017 Jun 14;11:330
pubmed: 28659753