CSF1R and leukoencephalopathy, hereditary diffuse, with spheroids: 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).