A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis

iSPTLC1/ihas been implicated in hereditary sensory and autonomic neuropathy type 1 (HSAN1) and macular telangiectasia type2. Recent studies have reported mutations iniSPLTC1/imay cause juvenile amyotrophic lateral sclerosis (JALS), especially in the first transmembrane domain ofiSPTLC1/i(exon 2). In this study, we identified a novel heterozygous variant in exon 2, c.113 T gt; C: p. Leu38Arg, ofiSPTLC1/iin a 12-year-old girl with sporadic JALS who experienced early-childhood-onset lower extremity spasticity followed by slowly progressive lower motor weakness and atrophy without sensory symptoms or signs.iSPLTC1/iis the first monogenic lipid metabolic disturbance that has been linked to ALS. The variant in exon 2 may impact on negative regulation of sphingolipid biosynthesis.