What does this research mean for the field?

In a Brazilian cohort, frontotemporal dementia is characterized by severe diagnostic delays, frequent initial misdiagnosis as Alzheimer's disease, and approximately twice the expected mortality of the general population, with the FTD-ALS subtype exhibiting the worst survival outcomes. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.NEUTRAL.

May 30, 2026

Clinical presentation and diagnostic challenges of frontotemporal dementia in Brazil: A 15-year cohort study.

Puntos clave

This study aims to characterize the clinical presentation and diagnostic challenges of frontotemporal dementia in Brazil over a 15-year period.
Retrospective cohort study of 190 patients with frontotemporal dementia (2009–2024)
Evaluated clinical features, neuroimaging, genetic testing, and survival outcomes
Calculated standardized mortality ratios using Brazilian life tables (IBGE 2017) as reference.
Only 15.8% of bvFTD and 17.7% of PPA patients received an accurate initial diagnosis, primarily misdiagnosed as Alzheimer's disease.
FTD-ALS patients had a significantly shorter median survival (79.0 months) compared to PPA (119.0 months) and bvFTD (144.0 months).
FTD patients exhibited approximately double the expected mortality for age- and sex-matched individuals in the general population (SMR: 1.97; 95% CI: 1.59–2.38).

Resumen

Introduction: Frontotemporal dementia (FTD) comprises heterogeneous neurodegenerative syndromes with limited data from low- and middle-income countries, where diagnostic delay and misdiagnosis are common. Methods: A retrospective cohort study was conducted of 190 patients with FTD meeting criteria for behavioral variant FTD (bvFTD), primary progressive aphasia (PPA), or FTD-amyotrophic lateral sclerosis (FTD-ALS) who were evaluated at a publicly-funded Brazilian tertiary referral center (2009–2024). Clinical features, diagnostic trajectories, neuroimaging, genetic testing, and survival outcomes were analyzed. Standardized mortality ratios (SMRs) were calculated using IBGE 2017 life tables as a reference. Results: The cohort comprised 95 bvFTD (50.0%; 73 probable and 22 possible), 79 PPA (41.6%), and 16 FTD-ALS (8.4%) patients. Accurate initial diagnosis was achieved in only 15.8% of bvFTD patients and 17.7% of PPA patients, with Alzheimer's disease being the most common misdiagnosis (36.8% and 34.2%, respectively). Survival differed significantly between subtypes (p < 0.001), with FTD-ALS having the shortest median survival (79.0 months) compared with PPA (119.0 months) and bvFTD (144.0 months). Compared with PPA, FTD-ALS was associated with increased mortality risk (HR: 4.01; 95% CI: 1.94–8.31; p < .001). FTD patients had approximately twice the expected mortality for age- and sex-matched individuals in the general population (SMR: 1.97; 95% CI: 1.59–2.38), with the highest excess mortality in FTD-ALS patients (SMR: 4.08). Discussion: This Brazilian hospital-based cohort reveals alarming diagnostic delays despite typical clinical phenotypes and high mortality across all FTD subtypes relative to the general population. These findings highlight the need for improved FTD awareness and specialized training among healthcare providers in Brazil and similar Latin American countries, underscoring the value of hospital-based cohort studies in characterizing FTD in low- and middle-income countries.

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