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Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study.
U Roine1,2, A M Tokola1, T Autti1
1From the Department of Radiology (U.R., A.M.T., T.A., T.R.), HUS Medical Imaging Center.
AJNR. American Journal of Neuroradiology
|December 22, 2022
Summary
Structural brain connectivity is altered in aspartylglucosaminuria (AGU), a rare neurodegenerative disease. This study reveals global and local network changes, suggesting brain network properties may aid in monitoring AGU progression.
Area of Science:
- Neuroimaging
- Network Neuroscience
- Lysosomal Storage Diseases
Background:
- Aspartylglucosaminuria (AGU) is a progressive neurodegenerative lysosomal storage disease.
- Previous MRI studies show brain atrophy and white matter abnormalities in AGU.
- Brain connectivity in AGU has not been previously investigated.
Purpose of the Study:
- To investigate global and local structural brain connectivity in AGU.
- To characterize network alterations in patients with AGU.
- To explore potential biomarkers for AGU progression.
Main Methods:
- Diffusion MRI and T1-weighted imaging from 12 AGU patients and 30 controls.
- Whole-brain constrained spherical deconvolution tractography.
- Graph-theoretical analysis of structural brain networks.
Main Results:
- Decreased network integration (global efficiency, characteristic path length).
- Reduced average network strength.
- Decreased local network strength in specific brain regions (thalamus, putamen, occipital/temporal lobes).
Conclusions:
- Global and local structural connectivity alterations are present in AGU.
- Brain network properties show potential as biomarkers for treatment efficacy and long-term follow-up in AGU.
