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

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2022

Liu Xiaoxuan, He Ji, Yu Weiyi, Fan Dongsheng

Abstract excerpt

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 > C: p. Leu38Arg, of SPTLC1 in a 12-year-old...

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PMID: 36204986
DOI: 10.1080/21678421.2022.2096409

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