Semi-quantitative immunohistochemistry and quantitative transcriptomic profiling in patients with HDLS has revealed that CSF1R mutations can result in the loss of microglial homeostatic phenotype (M0) in the white matter (Kempthorne et al., 2020). This evidence concerns the gene CSF1R and Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.