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Article

Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis

25 Mar 2023

Abstract excerpt

BACKGROUND: Recently, several rare variants of SPTLC1 were identified as disease cause for juvenile amyotrophic lateral sclerosis (ALS) by disrupting the normal homeostatic regulation of serine palmitoyltransferase (SPT). However, further exploration of the rare variants in large cohorts was still necessary. Meanwhile, SPTLC2 plays a similar role as SPTLC1 in the SPT function. METHODS: To explore the genetic role...

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PMID: 36966328
DOI: 10.1186/s40246-023-00479-3

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