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Updated: Jul 16, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Structural MRI across lifespan reveals differential thalamic trajectories in Down syndrome
Muhammad Shaikh1, Paul Fletcher1,2, Shahid Zaman1,2
1Department of Psychiatry, University of Cambridge, Cambridge, Cambridgeshire, UK.
Introduction:
Up to 90% of Down syndrome (DS) patients develop Alzheimer's disease (AD). Sleep disturbance, affecting over 75% of DS patients, is implicated in AD pathogenesis. The thalamus, central to sleep and arousal, shows early vulnerability in DS-related AD.
Methods:
Structural 3T MRI scans from 253 DS participants (119 males, mean age 43.0 ± 9.4 years) and 36 controls (30 males, mean age 43.1 ± 12.2 years) from the Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS) study were analyzed, alongside neurodegenerative plasma biomarker assays (phosphorylated tau [pTau]181, pTau217, neurofilament light chain [NfL], amyloid beta [Aβ]40, Aβ42).
Results:
In DS, intracranial volume-adjusted thalamic volume declined with age (t = -2.589, p = 0.00987), approximating 2.5% loss per decade. This was linear, gray matter involution-independent, and heterogeneous across nuclei, correlating negatively with pTau and NfL. Controls exhibited no significant volumetric changes.
Discussion:
Anteromedial and posterior thalamic shrinkage in DS AD mirrors sporadic AD. Associations with neurodegenerative biomarkers support thalamic atrophy as a sensitive marker of DS-related AD progression.
