Our study identified a novel p.T567M variant occurring in the juxtamembrane domain rather than the tyrosine kinase domain (TKD) of the CSF1R gene in a patient with a clinical phenotype consistent with ALSP/CSF1R-related leukoencephalopathy, classified as likely pathogenic based of ACMG criteria. Here, CSF1R is linked to Leukoencephalopathy.