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. 2021 Jan 6;9:3. doi: 10.1186/s40478-020-01085-3

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© The Author(s) 2020

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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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