Vanishing White Matter Disease (VWMD) is a rare genetic disorder characterized by white matter degeneration. Here we employed MRI to longitudinally characterize pathological changes in white matter with contrasts sensitive to pathology (T2W) and myelin integrity (MTR, DTI). Statistically significant difference were detected in T2W and MTR comparing wild-type and homozygous mice starting at 14 and 22 weeks of age, respectively. These differences between the wild-type and homozygous mice were observed before symptomatic behavioral changes, and became more prominent over the time. Correlations with immunohistochemistry markers provided underlying pathology corresponding to the observed imaging changes.
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