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Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis
Lei Wei1,2, Xiaonan Du3, Zhongwei Qiao4
1Institute of Science and Technology for Brain-Inspired Intelligence, Fudan University, Shanghai, China.
Summary
Angelman syndrome (AS) patients show widespread white matter differences, particularly in key brain tracts. These structural changes correlate with seizure frequency, offering new insights into neurodevelopmental disorders.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Angelman syndrome (AS) is a genetic neurodevelopmental disorder caused by UBE3A gene mutations.
- AS is characterized by intellectual disability, motor and speech impairments, and seizures.
- Previous research on brain connectivity in AS is limited, with unclear white matter structural changes.
Purpose of the Study:
- To investigate white matter microstructural abnormalities in AS patients using advanced diffusion MRI.
- To compare white matter differences between AS patients and healthy controls.
- To explore the association between white matter alterations and clinical symptoms, specifically seizure frequency.
Main Methods:
- Utilized diffusion MRI with fixel-based analysis (FBA) and diffusion tensor imaging (DTI).
- Included 30 AS patients and 19 healthy controls.
- Compared white matter microstructure metrics between groups and analyzed correlations with seizure frequency.
Main Results:
- AS patients exhibit significant white matter microstructural differences across the brain, notably in the corticospinal tract, arcuate fasciculate, and corpus callosum.
- FBA metrics showed higher sensitivity and specificity compared to tensor-based measures.
- Increased seizure frequency in AS patients correlated with more pronounced white matter alterations in six specific fiber tracts.
Conclusions:
- AS is associated with extensive white matter microstructural abnormalities.
- Fixel-based analysis is a sensitive method for detecting these changes.
- White matter alterations are linked to clinical severity, particularly seizure frequency, impacting patient outcomes.
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