Keywords: White Matter, Genetic Diseases, Leukodystrophy
Imaging biomarkers are needed for studying white matter (WM) diseases. Myelin water imaging (MWI) uses multi-compartment relaxometry to estimate myelin content, and is promising for use in leukodystrophies. We applied MCR-DIMWI and METRICS, two novel whole-brain MWI techniques, to a cohort of 9 leukodystrophy patients and 15 controls. Myelin water fractions (MWFs) from both techniques correlated well. In patients, MWF was decreased. For both techniques region-specific MWFs and relaxation metrics could differentiate patients from controls. They are promising for use in the context of leukodystrophies; additional studies are required to further explore potential clinical application.
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