| Myelin loss and cavitation | Progressive loss of myelin and oligodendrocytes leads to white matter rarefaction. The white matter eventually develops fluid-filled cysts, giving the characteristic "vanishing" appearance on MRI. |
| Foamy oligodendrocytes | A distinctive feature is the presence of "foamy" oligodendrocytes with cytoplasmic vacuolation, suggesting impaired lipid metabolism and protein processing. |
| Databases | OMIMOrphanetClinicalTrialsPubMed |