Brain Abnormalities in Becker Muscular Dystrophy: Evaluation by Voxel-Based DTI and Morphometric Analysis

Area of Science:

• Neuroimaging
• Neurology
• Muscular Dystrophy Research

Background:

• Becker muscular dystrophy (BMD) is associated with neuropsychological issues, yet neuroimaging studies are limited.
• Previous research has not extensively explored brain structural differences in BMD patients.

Purpose of the Study:

• To investigate brain abnormalities in Becker muscular dystrophy patients using advanced neuroimaging techniques.
• To explore the relationship between Dp140 isoform expression and white matter microstructural changes in BMD.

Main Methods:

• Utilized 3D T1-weighted imaging (T1WI) and diffusion tensor imaging (DTI) on 30 male BMD patients and 30 age-matched healthy controls.
• Classified patients into Dp140+ and Dp140- subgroups based on predicted dystrophin Dp140 isoform expression.
• Performed voxel-based and region-of-interest (ROI)-based DTI analyses to compare white matter integrity.

Main Results:

• Significantly decreased fractional anisotropy (FA) was observed in the left planum temporale and right superior parietal lobule in BMD patients compared to controls.
• The Dp140- subgroup showed decreased FA in the left planum temporale, while the Dp140+ subgroup had no significant FA changes.
• No significant differences were found in gray or white matter volumes, or other DTI metrics besides FA.

Conclusions:

• DTI analysis is effective in detecting white matter microstructural abnormalities in Becker muscular dystrophy.
• Dp140 isoform expression appears to influence the observed white matter changes in BMD, highlighting its potential role in disease pathogenesis.