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Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia
Authors
S Afonso
MR Almeida
+164 more
P Alves
S Anderl‐Straub
C Andersson
A Antonell
S Archetti
A Arighi
M Balasa
M Barandiaran
N Bargalló
R Bartha
B Bender
H Benotmane
A Benussi
M Bertoux
A Bertrand
V Bessi
T Best
S Black
M Bocchetta
M Bocchetta
V Borracci
S Borrego‐Ecija
B Borroni
A Bouzigues
A Brice
R Bruffaerts
A Bussy
CR Butler
A Camuzat
V Cantoni
P Caroppo
D Cash
M Castelo‐Branco
M Cañada
MM Chakravarty
O Colliot
RS Convery
T Cope
L Cupo
A Danek
A de Mendonça
V Deramecourt
GA Devenyi
G Di Fede
FS do Couto
S Ducharme
D Duro
A Engel
AS Esteve
C Fenoglio
C Ferrari
CB Ferreira
E Finger
M Freedman
G Fumagalli
A Funkiewiez
A Gabilondo
D Galimberti
R Gasparotti
S Gauthier
S Gazzina
A Gerhard
G Giaccone
L Giannini
A Gorostidi
L Graf
C Graff
CV Greaves
C Heller
T Hoegen
V Jelic
L Jiskoot
R Keren
G Kuchcinski
R Laforce
T Langheinrich
T Langheinrich
I Le Ber
T Lebouvier
MJ Leitão
J Levin
JP Levy
A Lladó
G Lombardi
J Lombardi
S Loosli
C Maruta
M Masellis
G Miltenberger
S Mitchell
F Moreno
B Nacmias
A Nelson
J Nicholas
JE Nielsen
J Olives
M Otto
JM Papma
F Pasquier
R Patel
Y Pijnenburg
Y Pijnenburg
K Poesen
C Polito
M Polyakova
J Poos
E Premi
S Prioni
C Prix
R Rademakers
V Redaelli
AM Remes
D Rinaldi
T Rittman
E Rogaeva
JD Rohrer
A Rollin
P Rosa‐Neto
G Rossi
JB Rowe
LL Russell
K Samra
R Sanchez‐Valle
I Santana
B Santiago
D Saracino
S Sayah
E Scarpini
ML Schroeter
S Schönecker
H Seelaar
R Shafei
C Shoesmith
S Sorbi
IJ Swift
M Synofzik
M Tainta
D Tang‐Wai
MC Tartaglia
DL Thomas
P Thompson
H Thonberg
C Timberlake
P Tiraboschi
P Tiraboschi
E Todd
M Tábuas‐Pereira
P Van Damme
T Van Langenhove
R van Minkelen
JC van Swieten
R Vandenberghe
M Vandenbulcke
M Veldsman
A Verdelho
J Villanua
A Vogels
O Wagemann
ML Waldö
C Wilke
E Wlasich
H Zetterberg
M Zulaica
L Öijerstedt
Publication date
9 March 2023
Publisher
'Wiley'
Doi
Abstract
Data Availability Statement: The data that support the findings of this study are available on request via https://www.genfi.org/study/ or by emailing
[email protected]
. The data are not publicly available due to privacy or ethical restrictions.Supporting Information: available online at: https://onlinelibrary.wiley.com/doi/10.1002/hbm.26220#support-information-section .Copyright © 2023 The Authors. Recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (FTD) due to microtubule-associated protein tau (MAPT), progranulin (GRN) and chromosome 9 open reading frame 72 (C9orf72). However, the cerebello-subcortical circuitry in FTD has been understudied despite its essential role in cognition and behaviors related to FTD symptomatology. The present study aims to investigate the association between cerebellar and subcortical atrophy, and neuropsychiatric symptoms across genetic mutations. Our study included 983 participants from the Genetic Frontotemporal dementia Initiative including mutation carriers and noncarrier first-degree relatives of known symptomatic carriers. Voxel-wise analysis of the thalamus, striatum, globus pallidus, amygdala, and the cerebellum was performed, and partial least squares analyses (PLS) were used to link morphometry and behavior. In presymptomatic C9orf72 expansion carriers, thalamic atrophy was found compared to noncarriers, suggesting the importance of this structure in FTD prodromes. PLS analyses demonstrated that the cerebello-subcortical circuitry is related to neuropsychiatric symptoms, with significant overlap in brain/behavior patterns, but also specificity for each genetic mutation group. The largest differences were in the cerebellar atrophy (larger extent in C9orf72 expansion group) and more prominent amygdalar volume reduction in the MAPT group. Brain scores in the C9orf72 expansion carriers and MAPT carriers demonstrated covariation patterns concordant with atrophy patterns detectable up to 20 years before expected symptom onset. Overall, these results demonstrated the important role of the subcortical structures in genetic FTD symptom expression, particularly the cerebellum in C9orf72 and the amygdala in MAPT carriers.Alzheimer Society of Canada; Weston Brain Institute; Fonds de Recherche du Québec - Santé; MRC UK GENFI, Grant/Award Number: MR/M023664/1; Italian Ministry of Health, Grant/Award Number: CoEN015; Canadian Institutes of Health Research; Alzheimer's Society grant, Grant/Award Number: AS-PG-16-007; Alzheimer's Society, Grant/Award Number: AS-JF-19a-004-517; NIHR Rare Diseases Translational Research Collaboration; Deutsche Forschungsgemeinschaft; NIHR Cambridge Biomedical Research Centre, Grant/Award Numbers: BRC-1215-20014, BRC149/NS/MH
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Last time updated on 04/05/2023