Detailed neuropathological reports from many of the rare mutations causing LSD and lipidoses are lacking, so the present discussion will focus on those with reported α-synuclein pathology: Gaucher disease [84], GM2 gangliosidosis [124], Sanfilippo syndrome [47], Niemann–Pick disease Type CI [99], neuronal ceroid lipofuscinosis type 10 [21], Fabry disease [23] and Krabbe disease [113], as described in Table 1. Here, SNCA is linked to Krabbe disease.