Dominant inactivating mutations in the intracellular kinase domain of the CSF1R, or CSF1R haploinsufficiency, cause CSF-1-receptor-related leukoencephalopathy (CRL), formerly known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), or adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) [5]. The gene discussed is CSF1R; the disease is Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.