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Summary
This summary is machine-generated.

Individuals with Down Syndrome (DS) show altered brain perfusion, detectable early using MRI. These changes resemble Alzheimer's disease (AD) patterns and correlate with AD biomarkers, highlighting potential for early detection.

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Area of Science:

  • Neuroimaging
  • Neurodegenerative Diseases
  • Genetics

Background:

  • Down Syndrome (DS) individuals have a high risk for Alzheimer's Disease (AD) due to chromosome 21 triplication.
  • Brain atrophy is studied in DS, but cerebral blood flow (CBF) changes are less understood.
  • This study investigates early CBF alterations in DS along the AD continuum using MRI.

Purpose of the Study:

  • To explore early cerebral blood flow (CBF) alterations in adults with Down Syndrome (DS) using pseudo-continuous arterial spin labeling (pCASL) MRI.
  • To compare CBF patterns in DS with those in sporadic Alzheimer's Disease (sAD).
  • To investigate the relationship between CBF, clinical stages, and AD biomarkers in DS.

Main Methods:

  • Cross-sectional MRI analysis of 32 euploid cognitively unimpaired (eCU), 37 DS, and 24 sAD individuals.
  • Utilized 3T-MRI with pseudo-continuous arterial spin labeling (pCASL) for CBF measurement.
  • Analyzed effects of age, sex, clinical stage, and AD biomarkers (CSF Aβ1-42/Aβ1-40, pTau-181, hippocampal volume) on CBF.

Main Results:

  • Age-related CBF decreases were region-specific: prefrontal in eCU, parietal in DS, temporal in sAD.
  • In DS, hypoperfusion progressed from temporoparietal to frontal regions with symptom onset, mimicking sAD.
  • Temporoparietal CBF correlated with AD biomarkers, particularly hippocampal volume, and differentiated asymptomatic from symptomatic DS.

Conclusions:

  • Brain perfusion is significantly altered in adults with DS along the AD continuum, detectable before clinical symptoms.
  • Hypoperfusion in DS at symptomatic stages resembles sAD patterns, affecting temporoparietal and frontal regions.
  • pCASL shows potential for detecting early functional changes in DS, aiding in understanding AD progression in this high-risk group.