Keywords: Susceptibility/QSM, Neurodegeneration, white matter disorders; susceptibility separation; deep gray matter nuclei
Motivation: While leukodystrophies are considered mainly white matter disorders, deep gray matter nuclei may also be affected and quantitative assessment of these regions may help the diagnostic process.
Goal(s): Identify quantitative patterns of neurodegeneration in deep gray matter nuclei in leukodystrophies by measuring iron load and myelination.
Approach: We measured alterations of susceptibility and its positive and negative components using QSM and DECOMPOSE-QSM in patients with inherited leukodystrophies in comparison to a group of healthy controls.
Results: DECOMPOSE-QSM reported iron accumulation and decreased myelination in deep gray matter nuclei in leukodystrophies, potentially revealing different patterns of neurodegeneration across patients of different genotypes.
Impact: QSM and DECOMPOSE-QSM provide information on neurodegeneration in deep gray matter nuclei in leukodystrophies potentially identifying disease-specific patterns and aiding the diagnostic process. Importantly, these techniques rely on standard clinical sequences and have short scan time, facilitating their clinical deployment.
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