Fig. 4.

Pedigree of the proband’s family, MRI images, and genotyping data. A Pedigree of the proband’s family (prepared via https://cegat.com/). Shading indicates carriers of the c.2350G > A (p.V784M) CSF1R variant with ALSP diagnosis. Symbol with a dot indicates a carrier without clinical manifestations of ALSP. B-E Brain MRI of subject II.3. B Sagittal FLAIR T2-weighted MR image showing thinning and hyperintense signal of the anterior portion of the body of the corpus callosum (red circle). C-D Axial T2-weighted MR images showing the presence of bilateral multifocal and confluent lesions in the frontal lobes (red circles) and multifocal lesions in the left fontal and parietal lobe with areas of restricted diffusion in the diffusion weighted image (E, red circles). F–H Brain MRI of a healthy control, matched by sex and age to subject II.3. F Sagittal T1-weighted image showing normal size and signal of the brain parenchyma, specifically of the corpus callosum. G-H Axial T2-weighted images showing no atrophy, normal ventricular size and normal signal at the level of the cerebral white matter. (I) Chromatogram of PBMC-derived DNA showing heterozygous c.2350G > A CSF1R variant (shown here as position 190)