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@ARTICLE{Soskic:282328,
author = {Soskic, Sonja and Tregidgo, Henry F J and Todd, Emily G and
Bouzigues, Arabella and Cash, David M and Russell, Lucy L
and Thomas, David L and Malone, Ian B and Foster, Phoebe H
and Ferry-Bolder, Eve and van Swieten, John C and Jiskoot,
Lize C and Seelaar, Harro and Sanchez-Valle, Raquel and
Laforce, Robert and Graff, Caroline and Galimberti, Daniela
and Vandenberghe, Rik and de Mendonça, Alexandre and
Tiraboschi, Pietro and Santana, Isabel and Gerhard,
Alexander and Levin, Johannes and Nacmias, Benedetta and
Otto, Markus and Bertoux, Maxime and Lebouvier, Thibaud and
Ducharme, Simon and Butler, Christopher R and Le Ber,
Isabelle and Finger, Elizabeth C and Tartaglia, Maria
Carmela and Masellis, Mario and Rowe, James B and Synofzik,
Matthis and Moreno, Fermin and Borroni, Barbara and
Alexander, Daniel C and Iglesias, Juan Eugenio and Rohrer,
Jonathan D and Bocchetta, Martina},
collaboration = {Initiative, GENetic Frontotemporal dementia},
othercontributors = {Convery, Rhian and Goldsmith, Sophie and Samra, Kiran and
Cope, Thomas and Malpetti, Maura and Alberici, Antonella and
Premi, Enrico and Gasparotti, Roberto and Buratti, Emanuele
and Cantoni, Valentina and Arighi, Andrea and Fenoglio,
Chiara and Borracci, Vittoria and Serpente, Maria and
Carandini, Tiziana and Rotondo, Emanuela and Rossi,
Giacomina and Giaccone, Giorgio and Di Fede, Giuseppe and
Caroppo, Paola and Prioni, Sara and Redaelli, Veronica and
Tang-Wai, David and Rogaeva, Ekaterina and Krüger, Johanna
and Castelo-Branco, Miguel and Freedman, Morris and Keren,
Ron and Black, Sandra and Mitchell, Sara and Shoesmith,
Christen and Bartha, Robart and Rademakers, Rosa and Poos,
Jackie and Papma, Janne M and Giannini, Lucia and de Boer,
Liset and de Houwer, Julie and van Minkelen, Rick and
Pijnenburg, Yolande and Ferrari, Camilla and Polito,
Cristina and Lombardi, Gemma and Bessi, Valentina and
Fainardi, Enrico and Chiti, Stefano and Nilsson, Mattias and
Viklund, Henrik and Rydell, Melissa Taheri and Jelic, Vesna
and Ullgren, Abbe and Langheinrich, Tobias and Lladó,
Albert and Antonell, Anna and Olives, Jaume and Balasa,
Mircea and Bargalló, Nuria and Borrego-Ecija, Sergi and
Verdelho, Ana and Maruta, Carolina and Costa-Coelho, Tiago
and Miltenberger, Gabriel and Simões do Couto, Frederico
and Gabilondo, Alazne and Croitoru, Ioana and Tainta, Mikel
and Barandiaran, Myriam and Alves, Patricia and Bender,
Benjamin and Mengel, David and Graf, Lisa and Vogels, Annick
and Vandenbulcke, Mathieu and Van Damme, Philip and
Bruffaerts, Rose and Poesen, Koen and Rosa-Neto, Pedro and
Montembault, Maxime and Migliaccio, Raffaella and Burgos,
Ninon and Rinaldi, Daisy and Prix, Catharina and Wlasich,
Elisabeth and Wagemann, Olivia and Schönecker, Sonja and
Bernhardt, Alexander Maximilian and Stockbauer, Anna and
Lombardi, Jolina and Anderl-Straub, Sarah and Rollin,
Adeline and Kuchcinski, Gregory and Deramecourt, Vincent and
Durães, João and Lima, Marisa and Leitão, Maria João and
Almeida, Maria Rosario and Tábuas-Pereira, Miguel and
Afonso, Sónia and Lemos, João},
title = {{T}halamus involvement in genetic frontotemporal dementia
assessed using structural and diffusion {MRI}: a {GENFI}
study.},
journal = {Brain communications},
volume = {7},
number = {6},
issn = {2632-1297},
address = {[Oxford]},
publisher = {Oxford University Press},
reportid = {DZNE-2025-01289},
pages = {fcaf420},
year = {2025},
abstract = {Thalamic subregions are commonly, but variably, affected by
different forms of frontotemporal dementia. We aimed to
better characterize thalamic subregional involvement in
genetic frontotemporal dementia with a recently published
thalamus segmentation tool that utilizes structural and
diffusion MRI, offering additional assessment of mean
diffusivity and a more fine-grained analysis of the pulvinar
specifically compared to previous studies. Using this tool,
we performed thalamus segmentations in MRI scans from
C9orf72, GRN and MAPT mutation carriers and mutation
non-carriers with suitable 3-Tesla MRI cross-sectional data
from the GENetic Frontotemporal dementia Initiative.
Mutation carriers were divided according to their genetic
group and Clinical Dementia Rating® Dementia Staging
Instrument plus National Alzheimer's Coordinating Center
Behaviour and Language Domains global score (0 or 0.5:
presymptomatic/prodromal stage, 1 or higher: symptomatic
stage). Following stringent quality control and
harmonization across sites and scanners, we compared volumes
and mean diffusivity values of thalamic subregions in
C9orf72 (47 presymptomatic, 10 symptomatic), GRN (57
presymptomatic, 11 symptomatic) and MAPT (31 presymptomatic,
12 symptomatic) mutation carriers to those in 109 mutation
non-carriers with analyses of covariance including age and
sex (and total intracranial volume for volumetric
comparisons) as covariates. Presymptomatic C9orf72 expansion
carriers showed smaller volumes $(3-8\%$ difference from
non-carriers) and higher mean diffusivity $(2-5\%$
difference from non-carriers) for several thalamic
subregions, including all pulvinar subdivisions. We found
subtly larger volumes of the ventral anterior subregion and
the non-medial pulvinar $(3\%$ difference from non-carriers
for both) in presymptomatic GRN mutation carriers, and of
the anteroventral subregion $(5\%$ difference from
non-carriers) in presymptomatic MAPT mutation carriers.
Symptomatic mutation carriers in all three genetic groups
showed significantly smaller volumes and widespread higher
mean diffusivity of thalamic subregions compared with
non-carriers, which were overall most prominent in
subregions involved in associative and limbic functions (the
midline, medial pulvinar, anteroventral, mediodorsal,
laterodorsal and lateral posterior subregions). Notably
smaller volume $(12-23\%$ difference from non-carriers) and
higher mean diffusivity $(16-23\%$ difference from
non-carriers) of the most medial part of the medial pulvinar
was a shared feature across the three genetic groups at the
symptomatic stage. Overall, our study confirms that thalamic
subregions are affected in genetic frontotemporal dementia
and identifies prominent involvement of the most medial part
of the medial pulvinar as a potential unifying feature in
the variable pattern of thalamic subregional involvement
across the main genetic groups.},
keywords = {MRI (Other) / diffusion tensor imaging (Other) /
frontotemporal dementia (Other) / genetics (Other) /
thalamus (Other)},
cin = {Clinical Research (Munich) / AG Levin / AG Gasser},
ddc = {610},
cid = {I:(DE-2719)1111015 / I:(DE-2719)1111016 /
I:(DE-2719)1210000},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41245435},
pmc = {pmc:PMC12612583},
doi = {10.1093/braincomms/fcaf420},
url = {https://pub.dzne.de/record/282328},
}
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