Fig. 2.

HSP- or FTD-associated patterns on brain MR images of ALS patients carrying heterozygous SPG7 mutations. a Sagittal T2-weighted scan of patient VALS008 carrying the p.(R400W) variant demonstrates vermis atrophy (designated by an arrow). In addition, CC thinning was observed with a total CC area of 496 mm². b, c Pronounced parietotemporal atrophy was detected in three of seven ALS patients carrying rare heterozygous SPG7 variants, whereby coronal T2-weighted images of patient VALS008 carrying the p.(R400W) variant (b), and patient VALS125 carrying the p.(R486Q) variant (c) are shown