Individuals carrying CSF1R loss-of-function mutations develop a series of neurological conditions such as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), or hereditary diffuse leukoencephalopathy with spheroids (HDLS), brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) (73–77). Here, CSF1R is linked to Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.