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Clinical Manifestations.

Veronica Perez1,2, Marcelo Jobet1,2, Pablo Toro3

  • 1Neurology Department, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 25, 2025
PubMed
Summary
This summary is machine-generated.

Very early onset behavioral variant frontotemporal dementia (bvFTD) is rare, often misdiagnosed as psychiatric illness. This case highlights the importance of considering bvFTD in young adults with severe behavioral changes.

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Area of Science:

  • Neurology
  • Neuroscience
  • Psychiatry

Background:

  • Frontotemporal dementia (FTD) presents heterogeneously with personality changes and cognitive impairment.
  • Behavioral variant FTD (bvFTD) is the most common type, typically emerging between 45-64 years.
  • Very early onset bvFTD, before age 30, is uncommon but presents significant diagnostic challenges.

Purpose of the Study:

  • To report a case of very early onset bvFTD in a 23-year-old male in Chile.
  • To highlight the diagnostic difficulties and atypical presentation of bvFTD in young adults.
  • To emphasize the need for considering neurodegenerative causes in young individuals with progressive behavioral changes.

Main Methods:

  • A 23-year-old male presented with progressive apathy, anxiety, stereotyped behaviors, and social withdrawal.
  • Initial psychiatric treatment was ineffective; symptoms progressed to hypersexualization and disinhibition.
  • Diagnostic workup included brain MRI, EEG, metabolic and genetic testing, and FDG-PET scans.

Main Results:

  • Brain MRI revealed bilateral frontal and temporal atrophy.
  • FDG-PET showed severe hypometabolism in the frontal and temporal lobes.
  • Despite rescue electroconvulsive therapy, behavioral symptoms worsened, leading to a bvFTD diagnosis after excluding other conditions.

Conclusions:

  • Very early onset bvFTD is an uncommon FTD presentation, often mistaken for psychiatric disorders.
  • Literature review identified 18 patients aged 25 or younger with bvFTD.
  • Tau pathology and MAPT gene mutations are common in very early onset bvFTD, contrasting with typical FTD (TDP-43 pathology).