Article
Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.
Journal of neuromuscular diseases - 1 Jul 2026
Fu Xiaona, Gable Kenneth, Gupta Sita D, Zhang KaiLi, Jia Bingbing, Wang Wenjun, Yang Xinying, Wang Lu, Ge Lin, Bönnemann Carsten G, Dunn Teresa M, Xiong Hui
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder that progressively affects motor neurons. Gain-of-function mutations in serine palmitoyltransferase (SPT) genes, notably SPTLC1 and SPTLC2, have been linked to juvenile ALS. Here, we describe two childhood-onset ALS cases with distinct SPTLC2 mutations, providing new insights into sphingolipid dysregulation and its role in ALS...
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