Perturbations in sphingolipid metabolism have been found responsible for misfolding events causing the formation of disease-specific protein isoforms such as alpha-synuclein in PD (Jazvinscak Jembrek et al., 2015), amyloid-beta in AD (Mielke et al., 2014) and huntingtin in Huntington's disease (Piccinini et al., 2010). This evidence concerns the gene HTT and Alzheimer disease.