Despite heterogeneous symptomatology, reviewed in [2], the prominent feature of NPC1 is the progressive degeneration of the cerebellar Purkinje cells (PCs), leading to heterogeneous neurological manifestations such as cognitive impairment, vertical supranuclear saccade, clumsiness, gait disturbance, neurodegeneration, and cerebellar ataxia [3–7]. Here, NPC1 is linked to cerebellar ataxia.