Figure 1 Brain MRI findings in January 2019 Axial FLAIR showed a small amount of white matter hyperintensities around the corner of bilateral lateral ventricles (arrows indicate, Panel 1a). Axial DWI showed no abnormalities (Panel 1b).

Figure 2 Brain MRI findings in December 7, 2021 Axial FLAIR showed multiple patchy white matter hyperintensities in the bilateral lateral paraventricular and frontotemporoparietal-occipital subcortical. The left cerebral hemisphere cortex was swollen, and the adjacent sulci were slightly shallow (arrows indicate, Panel 2a-2c). Axial DWI showed linear hyperintensity in the left frontotemporoparietal-occipital and insular cortex, similar to the "lace sign" (Panel 2d-2f). Axial ADC showed linear hypointensity in the left frontotemporoparietal-occipital and insular cortex (Panel 2g-2i).

Figure 3 Brain MRI findings in February 9, 2022 Axial fat-suppressed FLAIR showed multiple patchy hyperintensity signals in the subcortical and periventricular white matter regions of both cerebral hemispheres, more pronounced in the left frontal, temporal, parietal, and occipital lobes (Panel 3a, 3b). Axial fat-suppressed FLAIR showed hyperintensity signals in the left temporal and occipital lobe cortex and subcortical white matter (Panel 3c). Axial DWI showed no significant abnormalities (Panel 3d-3f).

Figure 4 Biopsy findings P62 positive INIs could be seen on skin (arrows indicate). Ubiquitin and P62 protein staining  ×400

Figure 5 RP-PCR showed one allele of NOTCH2NLC gene had a GGC repeat count of 126 times.