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Updated: May 12, 2026
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Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
Published on: November 14, 2017
Evolving brain functional abnormalities in PSEN1 mutation carriers: a resting and visual encoding fMRI study
Roser Sala-Llonch1, Juan Fortea, David Bartrés-Faz
1Department of Psychiatry and Clinical Psychobiology, Universitat de Barcelona, Barcelona, Spain.
Journal of Alzheimer'S Disease : JAD
|April 13, 2013
Summary
Functional MRI detects brain changes in PSEN1 mutation carriers before symptoms appear. These alterations in brain connectivity and activity may serve as early biomarkers for familial Alzheimer's disease.
Area of Science:
- Neuroscience
- Genetics
- Medical Imaging
Background:
- Presenilin-1 (PSEN1) mutations are the leading cause of familial Alzheimer's disease (AD).
- These mutations have high penetrance, meaning carriers are very likely to develop the disease.
Purpose of the Study:
- To investigate brain function alterations in PSEN1 mutation carriers using fMRI.
- To determine if fMRI can detect changes before clinical symptom onset in familial AD.
Main Methods:
- Resting-state and task-related functional magnetic resonance imaging (fMRI) were used.
- A cohort of 19 PSEN1 mutation carriers (8 symptomatic, 11 asymptomatic) and 13 healthy controls were studied.
- Default mode network connectivity and task-related brain activity were analyzed.
Main Results:
- Asymptomatic carriers showed altered default mode network connectivity (increased frontal, reduced posterior).
- Symptomatic carriers exhibited reversed connectivity patterns (decreased frontal, increased posterior) and reduced activity in specific cortical regions.
- Both carrier groups showed increased activity in the precuneus/posterior cingulate during a visual task.
Conclusions:
- fMRI can detect evolving brain mechanism changes in PSEN1 mutation carriers.
- fMRI shows potential as a biomarker for early detection of Alzheimer's disease, even pre-symptomatically.
