BORCS5 and Niemann-Pick disease type A: Consistent with this notion was the presence of multilamellar bodies in BORCS5 patient fibroblasts since similar structures have been described in patients with lysosomal storage disorders, including Niemann Pick disease types A and C, as well as PD cases carrying pathogenic GBA1 variants.20,28–30 Moreover, subjects carrying BORCS5 missense variants exhibited clinical and radiological features resembling those seen in infantile-onset lysosomal storage disorders, such as gangliosidosis, fucosidosis, and neuronal ceroid lipofuscinoses.31