Specifically, the Parkinsonism-related protein ATP13A2, involved with Kufor–Rakeb syndrome, was reduced in LBD GBA mutation carriers (p < 0.05, LBDmt n = 7 vs. LBDwt n = 14), see Fig 4), as was the major lysosomal protease Cathepsin D (Fig 4) in LBD cases (p < 0.05, LBDmt n = 7 vs. LBDwt n = 14), but not in controls carrying GBA mutation (p > 0.05, Cmt n = 5 vs. Cwt n = 11). This evidence concerns the gene CTSD and Kufor-Rakeb syndrome.