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Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia

Title: Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia
Authors: Kancheva, Ivana Kirilova; Bouzigues, Arabella; Russell, Lucy Louise; Foster, Phoebe H.; Ferry-Bolder, Eve; Van Swieten, John C.; Jiskoot, Lize Corrine; Seelaar, Harro; Sánchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Vandenberghe, Rik; de Mendonça, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Gerhard, Alexander; Levin, Johannes; Sorbi, Sandro; Otto, Markus; Ducharme, Simon; Butler, Christopher; Le Ber, Isabelle; Finger, Elizabeth; Tartaglia, Maria Carmela; Masellis, Mario; Synofzik, Matthis; Moreno, Fermin; Borroni, Barbara; Rohrer, Jonathan Daniel; van der Weerd, Louise; Rowe, James B.; Tsvetanov, Kamen; null, null; Convery, Rhian; Bocchetta, Martina; Cash, David; Goldsmith, Sophie; Samra, Kiran; Thomas, David L.; 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; Nacmias, Benedetta; Ferrari, Camilla; Polito, Cristina; Lombardi, Gemma; Bessi, Valentina; Fainardi, Enrico; Chiti, Stefano; Nilsson, Mattias; Viklund, Henrik; Rydell, Melissa Taheri; Jelic, Vesna; Ullgren, Abbe; Rodriguez-Vieitez, Elena; 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 Lara; 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: I.K. Kancheva; A. Bouzigue; L.L. Russell; P.H. Foster; E. Ferry-Bolder; J.C. Van Swieten; L.C. Jiskoot; H. Seelaar; R. Sánchez-Valle; R. Laforce; C. Graff; D. Galimberti; R. Vandenberghe; A. De Mendonça; P. Tiraboschi; I. Santana; A. Gerhard; J. Levin; S. Sorbi; M. Otto; S. Ducharme; C. Butler; I. Le Ber; E. Finger; M.C. Tartaglia; M. Maselli; M. Synofzik; F. Moreno; B. Borroni; J.D. Rohrer; L. Van Der Weerd; J.B. Rowe; K. Tsvetanov; N. Null; R. Convery; M. Bocchetta; D. Cash; S. Goldsmith; K. Samra; D.L. Thoma; 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; B. Nacmia; C. Ferrari; C. Polito; G. Lombardi; V. Bessi; E. Fainardi; S. Chiti; M. Nilsson; H. Viklund; M.T. Rydell; V. Jelic; A. Ullgren; E. Rodriguez-Vieitez; T. Langheinrich; A. Lladó; A. Antonell; J. Olive; M. Balasa; N. Bargalló; S. Borrego-Ecija; A. Verdelho; C. Maruta; T. Costa-Coelho
Publisher Information: Lippincott Williams and Wilkins
Publication Year: 2025
Collection: The University of Milan: Archivio Istituzionale della Ricerca (AIR)
Subject Terms: Settore BIOS-10/A - Biologia cellulare e applicata
Description: Background and Objectives Cerebrovascular reactivity (CVR) is an indicator of cerebrovascular health, and its signature in familial frontotemporal dementia (FTD) remains unknown. The primary aim was to investigate CVR in genetic FTD using an fMRI index of vascular contractility termed resting-state fluctuation amplitudes (RSFAs) and to assess whether RSFA differences are moderated by age. A secondary aim was to study the relationship between RSFA and cognition. Methods Participants included presymptomatic and symptomatic C9orf72, GRN, and MAPT pathogenic variation carriers, along with noncarriers, from the prospective Genetic FTD Initiative cohort study. Cross-sectional differences in CVR were assessed using both component-based and voxel-level RSFA maps. To study disease progression–related effects, the moderating effect of age on differences between genetic status groups was analyzed using generalized linear models. The influence of RSFA, and its interaction with genetic status, on participants’ cognitive function was also examined. All models were adjusted for sex, handedness, and scanning site and false discovery rate–corrected at p < 0.05. Results A total of 284 presymptomatic and 124 symptomatic sequence variation carriers, and 265 noncarriers, were included in the analysis (mean age 48.17 years, 55% female). Across the sample, symptomatic carriers exhibited lower RSFA and a greater age-related RSFA decline predominantly in the medial frontal (−0.07 standard units, p = 0.046, 95% CI −0.13 to −0.01) and posterior parietal (−0.06 standard units, p = 0.048, 95% CI −0.12 to 0.01) cortex, compared with presymptomatic carriers and noncarriers. RSFA was inversely correlated with age (−0.43 standard units, p < 0.001, 95% CI −0.48 to −0.37) and positively associated with cognitive function (0.09 standard units, p = 0.008, 95% CI 0.04–0.15), particularly in the prefrontal cortex, in sequence variation carriers across the sample, independent of disease stage. Discussion CVR impairment in genetic FTD has a ...
Document Type: article in journal/newspaper
Language: English
Relation: info:eu-repo/semantics/altIdentifier/pmid/40906975; info:eu-repo/semantics/altIdentifier/wos/WOS:001569069400001; volume:105; issue:6; firstpage:1; lastpage:15; numberofpages:15; journal:NEUROLOGY; https://hdl.handle.net/2434/1186556
DOI: 10.1212/wnl.0000000000213677
Availability: https://hdl.handle.net/2434/1186556; https://doi.org/10.1212/wnl.0000000000213677
Rights: info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/
Accession Number: edsbas.47920F04
Database: BASE