Fig. 1

Brain magnetic resonance imaging demonstrated high-intensity areas in the cerebral white matter on diffusion-weighted imaging seven years before the most recent hospitalization (a, b). Brain magnetic resonance imaging revealed high-intensity areas in the cerebral white matter and the grey matter–white matter junction on diffusion-weighted imaging (c, d). Skin biopsy samples were subjected to immunohistochemical staining. There were some circular or approximately circular structures deeply stained with 4-dimethylaminoazobenzene in the membranes of sweat gland cells (e: haematoxylin–eosin staining, × 200; f: anti-p62 immunohistochemical staining, × 200; g: electron micrograph). This patient had 96 GGC repeats in NOTCH2NLC (electropherograms of the GC-rich PCR assay [h] and the repeat-primed PCR assay [i])