CSF1R and Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia: Since HDLS was identified as a rare autosomal dominant disease caused by a mutation of the colony stimulating factor 1 receptor (CSF1R) gene located on chromosome 5 (5q32) [6], more than 70 pathogenic mutations have been reported in both hereditary and sporadic cases [7].