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Abstract #3429

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

Marta Lancione1, Matteo Cencini2,3, Bianca Buchignani1,4, Rosa Pasquariello1, Domenico Montanaro1, Chunlei Liu5, Roberta Battini1,4, Laura Biagi1, and Michela Tosetti1
1IRCCS Stella Maris Foundation, Pisa, Italy, 2National Institute for Nuclear Physics (INFN), Pisa Division, Pisa, Italy, 3IMAGO7 Foundation, Pisa, Italy, 4University of Pisa, Pisa, Italy, 5University of California, Berkeley, CA, United States

Synopsis

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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