Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia

Liu, Xulin; Boer, Sterre C. M. de; Cortez, Kasey; Poos, Jackie M.; Illán‐Gala, Ignacio; Heuer, Hilary; Forsberg, Leah K.; Casaletto, Kaitlin; Memel, Molly; Appleby, Brian S.; Barmada, Sami; Bozoki, Andrea; Clark, David; Cobigo, Yann; Darby, Ryan; Dickerson, Bradford C.; Domoto‐Reilly, Kimiko; Galasko, Douglas R.; Geschwind, Daniel H.; Ghoshal, Nupur; Graff‐Radford, Neill R.; Grant, Ian M.; Hsiung, Ging‐Yuek Robin; Honig, Lawrence S.; Huey, Edward D.; Irwin, David; Kantarci, Kejal; Léger, Gabriel C.; Litvan, Irene; Mackenzie, Ian R.; Masdeu, Joseph C.; Mendez, Mario F.; Onyike, Chiadi U.; Pascual, Belen; Pressman, Peter; Bayram, Ece; Ramos, Eliana Marisa; Roberson, Erik D.; Rogalski, Emily; Bouzigues, Arabella; Russell, Lucy L.; Foster, Phoebe H.; Ferry‐Bolder, Eve; Masellis, Mario; Swieten, John van; Jiskoot, Lize; Seelaar, Harro; Sanchez‐Valle, Raquel; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Vandenberghe, Rik; Mendonça, Alexandre de ; Tiraboschi, Pietro; Santana, Isabel; Gerhard, Alexander; Levin, Johannes ; Sorbi, Sandro; Otto, Markus; Pasquier, Florence; Ducharme, Simon; Butler, Chris R.; Ber, Isabelle Le; Finger, Elizabeth; Rowe, James B.; Synofzik, Matthis; Moreno, Fermin; Borroni, Barbara; Boeve, Brad F.; Boxer, Adam L.; Rosen, Howie J.; Pijnenburg, Yolande A. L.; Rohrer, Jonathan D. und Tartaglia, Maria Carmela (2025): Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia. In: Alzheimer's & Dementia, Vol. 21, No. 4, e14608

Abstract

Introduction: Higher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences in phenotypes between genetic and sporadic bvFTD females resulting in underdiagnosis of sporadic bvFTD females.

Methods: We included genetic and sporadic bvFTD patients from two multicenter cohorts. We compared behavioral and cognitive symptoms, and gray matter volumes, between genetic and sporadic cases in each sex.

Results: Females with sporadic bvFTD showed worse compulsive behavior (p = 0.026) and language impairments (p = 0.024) compared to females with genetic bvFTD (n = 152). Genetic bvFTD females had smaller gray matter volumes than sporadic bvFTD females, particularly in the parietal lobe.

Discussion: Females with sporadic bvFTD exhibit a distinct clinical phenotype compared to females with genetic bvFTD. This difference may explain the discrepancy in prevalence between genetic and sporadic cases, as some females without genetic mutations may be misdiagnosed due to atypical bvFTD symptom presentation.

• Item Type: Journal article
• Faculties: Medicine > Munich Cluster for Systems Neurology (SyNergy); Medicine > Medical Center of the University of Munich > Neurological Clinic and Polyclinic with Friedrich Baur Institute
• Subjects: 600 Technology > 610 Medicine and health
• ISSN: 1552-5260
• Annotation: with the ALLFTD Consortium and the GENFI Consortium investigators. A complete list of the members of the group can be found within the article.
• Language: English
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198