Gianmichele Migaleddu

1 Introduction Mutations in the colony-stimulating factor 1 receptor (CSF1R) gene (MIM #164770) cause primary central nervous system microgliopathy, leading to progressive leukoencephalopathy (Rademakers et al. 2012). This condition is known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) (MIM #221820) (Dulski et al. 2024). ALSP includes hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) (Marotti et al.

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INTRODUCTION T1-weighted (T1-w) imaging acquired after the intravenous administration of paramagnetic contrast media is widely used in clinical practice to assess patients with different disorders of the central nervous system, including tumors and inflammatory, demyelinating, and infectious diseases.1 Gadolinium-based contrast agents have an intravascular extracellular distribution and do not cross either cell membranes or the intact blood-brain barrier.2 When injected during an MRI exam,...