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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
In Vivo Evaluation of White Matter Abnormalities in Children with Duchenne Muscular Dystrophy Using DTI
V Preethish-Kumar1, A Shah2, M Kumar3
1From the Departments of Neurology (V.P.-K., K.P., S.V., S.N., A.N.).
Background And Purpose:
Duchenne muscular dystrophy is an X-linked disorder characterized by progressive muscle weakness and prominent nonmotor manifestations, such as a low intelligence quotient and neuropsychiatric disturbance. We investigated WM integrity in patients with Duchenne muscular dystrophy using DTI.
Materials And Methods:
Fractional anisotropy and mean, axial, and radial diffusivity (DTI measures) were used to assess WM microstructural integrity along with neuropsychological evaluation in patients with Duchenne muscular dystrophy (n = 60) and controls (n = 40). Exon deletions in the DMD gene were confirmed using multiplex ligation-dependent probe amplification. Patients were classified into proximal (DMD Dp140+) and distal (DMD Dp140-) subgroups based on the location of the exon deletion and expression of short dystrophin Dp140 isoform. WM integrity was examined using whole-brain Tract-Based Spatial Statistics and atlas-based analysis of DTI data. The Pearson correlation was performed to investigate the possible relationship between neuropsychological scores and DTI metrics.
Results:
The mean ages of Duchenne muscular dystrophy and control participants were 8.0 ± 1.2 years and 8.2 ± 1.4 years, respectively. The mean age at disease onset was 4.1 ± 1.8 years, and mean illness duration was 40.8 ± 25.2 months. Significant differences in neuropsychological scores were observed between the proximal and distal gene-deletion subgroups, with more severe impairment in the distal-deletion subgroup (P < .05). Localized fractional anisotropy changes were seen in the corpus callosum, parietal WM, and fornices in the patient subgroup with Dp140+, while widespread changes were noted in the Dp140- subgroup. The Dp140+ subgroup showed increased axial diffusivity in multiple WM regions relative to the Dp140- subgroup. No significant correlation was observed between clinical and neuropsychological scores and diffusion metrics.
Conclusions:
Widespread WM differences are evident in patients with Duchenne muscular dystrophy relative to healthy controls. Distal mutations in particular are associated with extensive WM abnormalities and poor neuropsychological profiles.
Insights
Duchenne muscular dystrophy (DMD) patients show widespread white matter (WM) integrity differences compared to controls. Distal DMD mutations are linked to more severe WM abnormalities and poorer neuropsychological outcomes.
Area of Science:
- Neurology
- Neuroimaging
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) is an X-linked disorder causing progressive muscle weakness and nonmotor issues like cognitive impairment.
- Investigating white matter (WM) integrity in DMD patients is crucial for understanding disease mechanisms.
Purpose of the Study:
- To assess WM microstructural integrity in DMD patients using diffusion tensor imaging (DTI).
- To correlate WM integrity with neuropsychological evaluations and genetic mutation types.
Main Methods:
- DTI measures (FA, MD, AD, RD) and neuropsychological tests were applied to 60 DMD patients and 40 controls.
- Patients were subgrouped into proximal (Dp140+) and distal (Dp140-) based on exon deletions in the DMD gene.
- Whole-brain Tract-Based Spatial Statistics and atlas-based analysis were used for WM examination.
Main Results:
- DMD patients exhibited significant differences in neuropsychological scores, with distal subgroups showing more severe impairment.
- Localized WM changes (e.g., corpus callosum, parietal WM) were observed in the Dp140+ subgroup.
- Widespread WM abnormalities and increased axial diffusivity were noted in the Dp140- subgroup.
Conclusions:
- Duchenne muscular dystrophy is associated with widespread WM integrity alterations.
- Distal DMD mutations correlate with extensive WM abnormalities and poorer neuropsychological profiles.
