Fig. 1

Brain MRI features of CSF1R-related leukoencephalopathy. The images were obtained from a 47-year-old female with progressive cognitive and behavioral deficits, and motor impairments with an approximate 3-year disease duration. Her father died of progressive dementia. The commercial genetic testing demonstrated the presence of heterozygote CSF1R mutation, p.L786S, c.2357 T > C. a, b Restricted diffusion in the splenium and left body of corpus callosum. c Thinning of corpus callosum on the sagittal section. d T2 hyperintensities in frontal and parietal white matter on the axial section. Courtesy of Daniel F. Broderick, M.D., Mayo Clinic Florida