There is a juvenile form of ALS [0]. The difference here (as stated in the abstract) is that a monogenic direct metabolic disturbance has not been causally link

There is a juvenile form of ALS [0]. The difference here (as stated in the abstract) is that a monogenic direct metabolic disturbance has not been causally linked to ALS. In more classical versions of this weird disease, up to 120 genes has been implicated in ALS, each of them having dozens of variants, resulting in ten of thousands different phenotypes. There is no ALS diagnostic, there is only an absence of diagnostic, but finding a case as straightforward as this new one may hopefully provides some clues to a therapy. As they recount in the abstract "The role of primary metabolic disturbances in ALS has been elusive; this study defines excess sphingolipid biosynthesis as a fundamental metabolic mechanism for motor neuron disease." [0] https://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis#Age_of_onset https://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis#...