Fig. 2

Brain MRI images of patients with PSEN1-related spastic paraparesis. (A-C) The three patients carrying a heterozygous PSEN1 p.F386S variant from Pedigree Q397. Patient IV-3 showed generalized brain atrophy (A) whereas the other two patients showed no remarkable atrophic change (B and C). (D) The patient R963 carries a heterozygous PSEN1 p.P284S variant. The MRI images showed no remarkable brain atrophy