Annabel Nelson, UCL Queen Square Institute of Neurology
Lucy L. Russell, UCL Queen Square Institute of Neurology
Georgia Peakman, UCL Queen Square Institute of Neurology
Rhian S. Convery, UCL Queen Square Institute of Neurology
Arabella Bouzigues, UCL Queen Square Institute of Neurology
Caroline V. Greaves, UCL Queen Square Institute of Neurology
Martina Bocchetta, UCL Queen Square Institute of Neurology
David M. Cash, UCL Queen Square Institute of Neurology
John C. van Swieten, Erasmus MC
Lize Jiskoot, Erasmus MC
Fermin Moreno, Osakidetza, Donostia University Hospital
Raquel Sanchez-Valle, Universitat de Barcelona
Robert Laforce, CHU de Québec - Université Laval
Caroline Graff, Karolinska Institutet
Mario Masellis, University of Toronto
Maria Carmela Tartaglia, Tanz Centre for Research in Neurodegenerative Diseases
James B. Rowe, Department of Clinical Neurosciences
Barbara Borroni, Università degli Studi di Brescia
Elizabeth Finger, Western UniversityFollow
Matthis Synofzik, Hertie-Institut für klinische Hirnforschung
Daniela Galimberti, Ospedale Maggiore Policlinico Milano
Rik Vandenberghe, Departement Neurowetenschappen
Alexandre de Mendonça, Faculdade de Medicina, Universidade de Lisboa
Chris R. Butler, University of Oxford Medical Sciences Division
Alexander Gerhard, The University of Manchester
Simon Ducharme, School of Medicine
Isabelle Le Ber, Hôpital Universitaire Pitié Salpêtrière
Isabel Santana, Centro Hospitalar e Universitário de Coimbra
Florence Pasquier, Université de Lille
Johannes Levin, Ludwig-Maximilians-Universität München

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Annals of Clinical and Translational Neurology





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Introduction: Behavioural dysfunction is a key feature of genetic frontotemporal dementia (FTD) but validated clinical scales measuring behaviour are lacking at present. Methods: We assessed behaviour using the revised version of the Cambridge Behavioural Inventory (CBI-R) in 733 participants from the Genetic FTD Initiative study: 466 mutation carriers (195 C9orf72, 76 MAPT, 195 GRN) and 267 non-mutation carriers (controls). All mutation carriers were stratified according to their global CDR plus NACC FTLD score into three groups: asymptomatic (CDR = 0), prodromal (CDR = 0.5) and symptomatic (CDR = 1+). Mixed-effects models adjusted for age, education, sex and family clustering were used to compare between the groups. Neuroanatomical correlates of the individual domains were assessed within each genetic group. Results: CBI-R total scores were significantly higher in all CDR 1+ mutation carrier groups compared with controls [C9orf72 mean 70.5 (standard deviation 27.8), GRN 56.2 (33.5), MAPT 62.1 (36.9)] as well as their respective CDR 0.5 groups [C9orf72 13.5 (14.4), GRN 13.3 (13.5), MAPT 9.4 (10.4)] and CDR 0 groups [C9orf72 6.0 (7.9), GRN 3.6 (6.0), MAPT 8.5 (13.3)]. The C9orf72 and GRN 0.5 groups scored significantly higher than the controls. The greatest impairment was seen in the Motivation domain for the C9orf72 and GRN symptomatic groups, whilst in the symptomatic MAPTgroup, the highest-scoring domains were Stereotypic and Motor Behaviours and Memory and Orientation. Neural correlates of each CBI-R domain largely overlapped across the different mutation carrier groups. Conclusions: The CBI-R detects early behavioural change in genetic FTD, suggesting that it could be a useful measure within future clinical trials.