Genetic studies for leukodystrophy-related genes showed that a c.2345 G > A (p.782Arg > His) mutation in exon 18 of CSF1R was present (Fig. 7), which has been proven to be the pathogenic gene for HDLS. Here, CSF1R is linked to Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.