SPTLC1 and amyotrophic lateral sclerosis: Though labeled as HSAN1, the phenotypes associated with variants in SPTLC1 are varied, with patients manifesting various combinations of sensory loss, autonomic dysfunction, and motor weakness.22 Indeed, there is a previous report of a de novo p.Ser331Tyr variant in SPTLC1 in a young French girl presenting with a similar phenotype to the patients in this article.16 Her clinical picture consisted of severe growth restriction, cognitive impairment, amyotrophy, hyperreflexia, vocal cord paralysis, and respiratory failure, although this patient was not diagnosed as having juvenile ALS.