SMPD1 and Niemann-Pick disease type A: That Asm deficiency may predispose to neuronal injury is known from Niemann Pick disease type-A, where progressive neurodegeneration evolves in the cerebral and cerebellar cortex, basal ganglia, brain stem and spinal cord with ataxia, dysarthria and dysphagia starting at the age of 3–4 months as a consequence of a complete loss-of-function SMPD1 mutation [20].