Patterns of iron load and myelination in deep gray matter nuclei in leukodystrophies revealed by DECOMPOSE-QSM

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.