Fig. 4

Simplified representation of pathophysiology and neuropathology findings in SLC35A2-related MOGHE cases. a SLC35A2 loss-of-function variants (right) cause a defect in protein/sphingolipid glycosylation in the cell, with reduced galactose residues due to the diminished UDP-galactose availability within the Golgi apparatus and endoplasmic reticulum. b Loss of SLC35A2 function leads to a MOGHE phenotype, with clusters of increased density of Olig2-positive cells in the white matter and deep cortical layers, a blurred grey-white matter boundary (dotted line), patchy hypomyelination (color gradient within the white matter) and heterotopic neurons in the white matter. Analysis of microdissected cells revealed that SLC35A2 pathogenic variant is enriched in oligodendroglial cells isolated from clusters with increased cell density and heterotopic neurons. L1-L6: layers 1-6; WM: myelination in the white matter; Olig2+ Olig2-positive cells