CSF1R mutations have been associated with Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS) [125] [MIM: 221820] A postmortem brain tissue examination supported HDLS diagnosis for the CSF1R c.2068G>A (p.Gly690Ser) variant carrier (Additional file 1: Figure S36). Here, CSF1R is linked to Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.