Most recently, mutations in the Colony-Stimulating Factor 1 Receptor gene (CSF1R), have been associated with causing hereditary diffuse leukencephalopathy with axonal spheroids (HDLS)6, 7 and pigmentary orthochromatic leukodystrophy (POLD)8. This evidence concerns the gene CSF1R and Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.