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SPTLC1  has been implicated in hereditary sensory and autonomic neuropathy type 1 (HSAN1) and macular telangiectasia type2. Recent studies have reported mutations in  SPLTC1  may cause juvenile amyotrophic lateral sclerosis (JALS), especially in the first transmembrane domain of  SPTLC1 (exon 2). In this study, we identified a novel heterozygous variant in exon 2, c.113 T &gt; C: p. Leu38Arg, of  SPTLC1  in 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.  SPLTC1  is 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.

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