| Title: |
Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study |
| Authors: |
Soskic, Sonja; Tregidgo, Henry F J; Todd, Emily G; Bouzigues, Arabella; Cash, David M; Russell, Lucy L; Thomas, David L; Malone, Ian B; Foster, Phoebe H; Ferry-Bolder, Eve; van Swieten, John C; Jiskoot, Lize C; Seelaar, Harro; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Vandenberghe, Rik; de Mendonça, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Gerhard, Alexander; Levin, Johannes; Nacmias, Benedetta; Otto, Markus; Bertoux, Maxime; Lebouvier, Thibaud; Ducharme, Simon; Butler, Christopher R; Le Ber, Isabelle; Finger, Elizabeth C; Tartaglia, Maria Carmela; Masellis, Mario; Rowe, James B; Synofzik, Matthis; Moreno, Fermin; Borroni, Barbara; Alexander, Daniel C; Iglesias, Juan Eugenio; Rohrer, Jonathan D; Bocchetta, Martina; null, null; Convery, Rhian; Goldsmith, Sophie; Samra, Kiran; Cope, Thomas; Malpetti, Maura; Alberici, Antonella; Premi, Enrico; Gasparotti, Roberto; Buratti, Emanuele; Cantoni, Valentina; Arighi, Andrea; Fenoglio, Chiara; Borracci, Vittoria; Serpente, Maria; Carandini, Tiziana; Rotondo, Emanuela; Rossi, Giacomina; Giaccone, Giorgio; Di Fede, Giuseppe; Caroppo, Paola; Prioni, Sara; Redaelli, Veronica; Tang-Wai, David; Rogaeva, Ekaterina; Krüger, Johanna; Castelo-Branco, Miguel; Freedman, Morris; Keren, Ron; Black, Sandra; Mitchell, Sara; Shoesmith, Christen; Bartha, Robart; Rademakers, Rosa; Poos, Jackie; Papma, Janne M; Giannini, Lucia; de Boer, Liset; de Houwer, Julie; van Minkelen, Rick; Pijnenburg, Yolande; Ferrari, Camilla; Polito, Cristina; Lombardi, Gemma; Bessi, Valentina; Fainardi, Enrico; Chiti, Stefano; Nilsson, Mattias; Viklund, Henrik; Rydell, Melissa Taheri; Jelic, Vesna; Ullgren, Abbe; Langheinrich, Tobias; Lladó, Albert; Antonell, Anna; Olives, Jaume; Balasa, Mircea; Bargalló, Nuria; Borrego-Ecija, Sergi; Verdelho, Ana; Maruta, Carolina; Costa-Coelho, Tiago; Miltenberger, Gabriel; Simões do Couto, Frederico; Gabilondo, Alazne; Croitoru, Ioana; Tainta, Mikel; Barandiaran, Myriam; Alves, Patricia; Bender, Benjamin; Mengel, David; Graf, Lisa; Vogels, Annick; Vandenbulcke, Mathieu; Van Damme, Philip; Bruffaerts, Rose; Poesen, Koen; Rosa-Neto, Pedro; Montembault, Maxime; Migliaccio, Raffaella; Burgos, Ninon; Rinaldi, Daisy; Prix, Catharina; Wlasich, Elisabeth; Wagemann, Olivia; Schönecker, Sonja; Bernhardt, Alexander Maximilian; Stockbauer, Anna; Lombardi, Jolina; Anderl-Straub, Sarah; Rollin, Adeline; Kuchcinski, Gregory; Deramecourt, Vincent; Durães, João; Lima, Marisa; Leitão, Maria João; Almeida, Maria Rosario; Tábuas-Pereira, Miguel; Afonso, Sónia; Lemos, João |
| Contributors: |
S. Soskic; H.F.J. Tregidgo; E.G. Todd; A. Bouzigue; D.M. Cash; L.L. Russell; D.L. Thoma; I.B. Malone; P.H. Foster; E. Ferry-Bolder; J.C. Van Swieten; L.C. Jiskoot; H. Seelaar; R. Sanchez-Valle; R. Laforce; C. Graff; D. Galimberti; R. Vandenberghe; A. De Mendonça; P. Tiraboschi; I. Santana; A. Gerhard; J. Levin; B. Nacmia; M. Otto; M. Bertoux; T. Lebouvier; S. Ducharme; C.R. Butler; I. Le Ber; E.C. Finger; M.C. Tartaglia; M. Maselli; J.B. Rowe; M. Synofzik; F. Moreno; B. Borroni; D.C. Alexander; J.E. Iglesia; J.D. Rohrer; M. Bocchetta; N. Null; R. Convery; S. Goldsmith; K. Samra; T. Cope; M. Malpetti; A. Alberici; E. Premi; R. Gasparotti; E. Buratti; V. Cantoni; A. Arighi; C. Fenoglio; V. Borracci; M. Serpente; T. Carandini; E. Rotondo; G. Rossi; G. Giaccone; G. Di Fede; P. Caroppo; S. Prioni; V. Redaelli; D. Tang-Wai; E. Rogaeva; J. Krüger; M. Castelo-Branco; M. Freedman; R. Keren; S. Black; S. Mitchell; C. Shoesmith; R. Bartha; R. Rademaker; J. Poo; J.M. Papma; L. Giannini; L. De Boer; J. De Houwer; R. Van Minkelen; Y. Pijnenburg; C. Ferrari; C. Polito; G. Lombardi; V. Bessi; E. Fainardi; S. Chiti; M. Nilsson; H. Viklund; M.T. Rydell; V. Jelic; A. Ullgren; T. Langheinrich; A. Lladó; A. Antonell; J. Olive; M. Balasa; N. Bargalló; S. Borrego-Ecija |
| Publisher Information: |
Oxford University Press |
| Publication Year: |
2025 |
| Collection: |
The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| Subject Terms: |
MRI; diffusion tensor imaging; frontotemporal dementia; genetic; thalamu; Settore BIOS-10/A - Biologia cellulare e applicata |
| Description: |
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 ... |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/41245435; info:eu-repo/semantics/altIdentifier/wos/WOS:001613444600001; volume:7; issue:6; firstpage:1; lastpage:16; numberofpages:16; journal:BRAIN COMMUNICATIONS; https://hdl.handle.net/2434/1200676 |
| DOI: |
10.1093/braincomms/fcaf420 |
| Availability: |
https://hdl.handle.net/2434/1200676; https://doi.org/10.1093/braincomms/fcaf420 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.E46DB56C |
| Database: |
BASE |