Distinct clinical subtypes of genetic frontotemporal dementia identified using disease progression modelling

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ID: 332484
2026
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Abstract
Abstract Understanding the order in which symptoms occur in genetic frontotemporal dementia (FTD) may provide valuable insight into disease progression. Here we use a methodology called Ordinal Subtype and Stage Inference (SuStaIn) in the GENetic FTD Initiative (GENFI) cohort to estimate a probable order in which symptoms occur, and identify different subtypes based on the pattern of symptom progression within the main genetic FTD mutation groups. 968 participants were included in the cross-sectional study: 280 C9orf72, 242 GRN and 101 MAPT mutation carriers, and 345 mutation-negative controls. 379 participants underwent longitudinal analysis: 162 C9orf72, 146 GRN and 71 MAPT mutation carriers. The standardised GENFI clinical assessment provided severity scores for all FTD-relevant symptoms ranging from 0 where symptoms are absent to 3 where symptoms are severe. Ordinal SuStaIn was run in each mutation group to generate symptom progression profiles for mutation carriers from each group. In the C9orf72 cohort, Ordinal SuStaIn identified three subtypes: subtype 1 with early behavioural and cognitive deficits, subtype 2 with impaired speech and swallowing, and subtype 3 with limb impairment. In the GRN cohort, SuStaIn identified two subtypes: subtype 1 with behavioural and cognitive deficits as well as limb motor involvement, and subtype 2 with early language impairment. The MAPT cohort was best described as a single subtype with a combination of cognitive (mainly semantic) and behavioural impairment with parkinsonism. SuStaIn stage significantly correlated with clinical severity scores for all the cohorts. The subtypes were somewhat longitudinally consistent, with a trend towards increased SuStaIn stage in each subtype over time. Identifying within-genotype data-driven subtypes of FTD is a novel approach for untangling the heterogeneity of this disorder, in turn drawing us closer to individualised care.
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Authors Kiran Samra, Arabella Bouzigues, Phoebe H. Foster, Eve Ferry‐Bolder, William J. Scotton, John Cornelis Van Swieten, Lize Corrine Jiskoot, Harro Seelaar, Raquel Sánchez‐Valle, Robert Laforce, Caroline Graff, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Rik R. Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Thibaud Lebouvier, Maxime Bertoux, Simon Ducharme, Christopher Robert Butler, Isabelle Le Ber, Elizabeth C. Finger, James Benedict Rowe, Matthis Synofzik, Fermín Moreno, Barbara Borroni, Neil P. Oxtoby, Lucy Louise Russell, Jonathan D. Rohrer, Alexandra L. Young, Genfi, Rhian S. Convery, Martina Bocchetta, David M. Cash, Sophie Goldsmith, David Lee Thomas, Thomas Cope, Timothy Rittman, Antonella Alberici, Enrico Premi, Roberto Gasparotti, Emanuele Buratti, Valentina Cantoni, Andrea Arighi, Chiara Fenoglio, Vittoria Borracci, María Serpente, Tiziana Carandini, Emanuela Rotondo, Giacomina Rossi, Giorgio Giaccone, Giuseppe Di Fede, Paola Caroppo, Sara Prioni, Veronica Redaelli, David F. Tang‐Wai, Ekaterina A. Rogaeva, Miguel Castelo-Branco, Morris Freedman, Ron Keren, Sandra Black, Sara Berman Mitchell, Christen L. Shoesmith, Robart Bartha, Rosa Rademakers, Jackie M. Poos, Janne M. Papma, Lucia Giannini, Liset de Boer, Julie F. H. De Houwer, Rick van Minkelen, Yolande A.L. Pijnenburg, Benedetta Nacmias, Camilla Ferrari, Cristina Polito, Gemma Lombardi, Valentina Bessi, Mattias Nilsson, Henrik Viklund, Melissa Taheri Rydell, Vesna Jelić, Linn Öijerstedt, Tobias Christoph Langheinrich, Albert Lladó, Anna Antonell, Jaume Olives, Mircea Balasa, Núria Bargalló, Sergi Borrego‐Écija, Ana Verdelho, Carolina Maruta, Tiago Coelho, Gabriel Miltenberger, Frederico Simões do Couto
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Journal Brain communications
Year 2026
DOI
10.1093/braincomms/fcag392
URL
https://doi.org/10.1093/braincomms/fcag392
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