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Clinical Manifestations.

Youjin Jung1, Jolina Lombardi1, Rowan Heffelfinger1

  • 1Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.

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

Genetic variants causing frontotemporal dementia (FTD) and Alzheimer's disease (AD) may impact neurodevelopment. This study investigates early-life differences and overlap with neurodevelopmental disorders in children and young adults.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autosomal dominant genes linked to FTD and AD play roles in neurodevelopment, not just late-onset neurodegeneration.
  • Subtle neurodevelopmental differences may exist in asymptomatic carriers of these genetic variants.
  • Early emergence and overlap with disorders like ASD, ADHD, and LBLD remain unclear.

Purpose of the Study:

  • To characterize the neurodevelopmental phase of genetic FTD and AD.
  • To investigate early-life differences in individuals with FTD/AD genetic variants.
  • To explore potential phenotypic overlap between genetic FTD/AD and neurodevelopmental disorders.

Main Methods:

  • Recruitment of children and young adults (7-25 years) with genetic FTD/AD variants, ASD, ADHD, LBLD, and typically developing controls.
  • Comprehensive assessments including neurological evaluation, neuropsychological and academic testing, and MRI.
  • Genetic testing for autosomal dominant variants in FTD/AD families.

Main Results:

  • Ongoing recruitment with initial participant data from FTD, AD, ASD, ADHD, LBLD, and TDC cohorts.
  • Planned analyses will examine effects of genetic variants on neuropsychological, academic, and neuroimaging measures.
  • Focus on brain volume, white matter integrity, and functional connectivity.

Conclusions:

  • This research aims to illuminate the neurodevelopmental aspects of genetic FTD and AD.
  • Findings will offer insights into the biology of these conditions.
  • The study will clarify phenotypic overlap with neurodevelopmental syndromes.