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. Highlights: Sex ratio is equal in genetic behavioral variant of frontotemporal dementia (bvFTD), whereas more males are present in sporadic bvFTD. Distinct neuropsychiatric phenotypes exist between sporadic and genetic bvFTD in females. Phenotype might explain the sex ratio difference between sporadic and genetic cases.
Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia / X. Liu, S.C.M. De Boer, K. Cortez, J.M. Poos, I. Illán‐gala, H. Heuer, L.K. Forsberg, K. Casaletto, M. Memel, B.S. Appleby, S. Barmada, A. Bozoki, D. Clark, Y. Cobigo, R. Darby, B.C. Dickerson, K. Domoto‐reilly, D.R. Galasko, D.H. Geschwind, N. Ghoshal, N.R. Graff‐radford, I.M. Grant, G.R. Hsiung, L.S. Honig, E.D. Huey, D. Irwin, K. Kantarci, G.C. Léger, I. Litvan, I.R. Mackenzie, J.C. Masdeu, M.F. Mendez, C.U. Onyike, B. Pascual, P. Pressman, E. Bayram, E.M. Ramos, E.D. Roberson, E. Rogalski, A. Bouzigues, L.L. Russell, P.H. Foster, E. Ferry‐bolder, M. Masellis, J. Van Swieten, L. 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, S. Sorbi, M. Otto, F. Pasquier, S. Ducharme, C.R. Butler, I.L. Ber, E. Finger, J.B. Rowe, M. Synofzik, F. Moreno, B. Borroni, B.F. Boeve, A.L. Boxer, H.J. Rosen, Y.A.L. Pijnenburg, J.D. Rohrer, M.C. Tartaglia, N. Null. - In: ALZHEIMER'S & DEMENTIA. - ISSN 1552-5260. - 21:4(2025 Apr), pp. e14608.1-e14608.17. [10.1002/alz.14608]
Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia
D. Galimberti;
2025
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. Highlights: Sex ratio is equal in genetic behavioral variant of frontotemporal dementia (bvFTD), whereas more males are present in sporadic bvFTD. Distinct neuropsychiatric phenotypes exist between sporadic and genetic bvFTD in females. Phenotype might explain the sex ratio difference between sporadic and genetic cases.
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