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Cardiac biomarkers are enzymes, proteins, and hormones released into the blood when cardiac cells are injured. They are powerful tools for triaging.
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Trajectories of brain structure and function in young adult carriers of genetic frontotemporal dementia variants.

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Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
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Biomarkers.

Kamen A Tsvetanov1,2, P Simon Jones1, Maura Malpetti1

  • 1Department of Clinical Neurosciences, University of Cambridge, Cambridge, Cambridgeshire, United Kingdom.

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

Functional network integrity is crucial for cognitive performance in frontotemporal dementia (FTD). This study shows a progressive de-coupling between structural and functional brain connectivity in genetic FTD, impacting disease progression.

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Area of Science:

  • Neuroscience
  • Neuroimaging
  • Cognitive Neurology

Background:

  • Functional network integrity is vital for cognitive function during the presymptomatic stages of frontotemporal dementia (FTD).
  • The relationship between preserved structural connectivity and functional integrity in FTD remains unclear.
  • This study investigates structure-function coupling in relation to genetic risk and disease progression in FTD.

Purpose of the Study:

  • To examine the association between structural and functional brain connectivity.
  • To assess how this structure-function coupling changes with genetic risk for FTD.
  • To understand the relationship between structure-function coupling and FTD disease progression.

Main Methods:

  • Utilized diffusion weighted imaging and functional MRI from the GENFI cohort (56 symptomatic, 165 pre-symptomatic FTD-mutation carriers, 141 non-carriers).
  • Quantified participant-level structural and functional connectomes using established approaches and the Brainnetome Atlas.
  • Employed regularized canonical correlation analysis (CCA) to jointly analyze structural and functional connectomes, with regression models testing group differences.

Main Results:

  • Identified a significant component linking structural connectivity to functional segregation (r=0.656, p < 0.001).
  • Higher structure-function coupling was observed in non-carriers compared to pre-symptomatic carriers.
  • Symptomatic carriers exhibited minimal structure-function coupling, indicating decoupling and potential cognitive decline.

Conclusions:

  • Demonstrated progressive de-coupling between structural connectivity and functional segregation in genetic frontotemporal dementia.
  • These findings highlight imaging-based markers for neural system dynamics.
  • Results have implications for designing pre-symptomatic, disease-modifying trials for FTD.