TY  - JOUR
AU  - Soskic, Sonja
AU  - Tregidgo, Henry F J
AU  - Todd, Emily G
AU  - Bouzigues, Arabella
AU  - Cash, David M
AU  - Russell, Lucy L
AU  - Thomas, David L
AU  - Malone, Ian B
AU  - Foster, Phoebe H
AU  - Ferry-Bolder, Eve
AU  - van Swieten, John C
AU  - Jiskoot, Lize C
AU  - Seelaar, Harro
AU  - Sanchez-Valle, Raquel
AU  - Laforce, Robert
AU  - Graff, Caroline
AU  - Galimberti, Daniela
AU  - Vandenberghe, Rik
AU  - de Mendonça, Alexandre
AU  - Tiraboschi, Pietro
AU  - Santana, Isabel
AU  - Gerhard, Alexander
AU  - Levin, Johannes
AU  - Nacmias, Benedetta
AU  - Otto, Markus
AU  - Bertoux, Maxime
AU  - Lebouvier, Thibaud
AU  - Ducharme, Simon
AU  - Butler, Christopher R
AU  - Le Ber, Isabelle
AU  - Finger, Elizabeth C
AU  - Tartaglia, Maria Carmela
AU  - Masellis, Mario
AU  - Rowe, James B
AU  - Synofzik, Matthis
AU  - Moreno, Fermin
AU  - Borroni, Barbara
AU  - Alexander, Daniel C
AU  - Iglesias, Juan Eugenio
AU  - Rohrer, Jonathan D
AU  - Bocchetta, Martina
TI  - Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study.
JO  - Brain communications
VL  - 7
IS  - 6
SN  - 2632-1297
CY  - [Oxford]
PB  - Oxford University Press
M1  - DZNE-2025-01289
SP  - fcaf420
PY  - 2025
AB  - 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
KW  - MRI (Other)
KW  - diffusion tensor imaging (Other)
KW  - frontotemporal dementia (Other)
KW  - genetics (Other)
KW  - thalamus (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:41245435
C2  - pmc:PMC12612583
DO  - DOI:10.1093/braincomms/fcaf420
UR  - https://pub.dzne.de/record/282328
ER  -