Although mutations in the TK domain (exons 12–22, aa 582–910) have been reported as pathogenic12, mutations in the TK flanking regions have been linked to AD28 and particularly p.E573K is characterized by a significantly decreased autophosphorylation compared to the wild-type CSF1R and has been previously reported in a patient presenting ischemic embolic stroke without the classical HDLS clinical feature but periventricular white matter abnormalities, unrelated to the recent infarct29. The gene discussed is CSF1R; the disease is Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.