Article
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Neuropathology and applied neurobiology - 1 Dec 2022
Fiorillo Chiara, Capodivento Giovanna, Geroldi Alessandro, Tozza Stefano, Moroni Isabella, Mohassel Payam, Cataldi Matteo, Campana Chiara, Morando Simone, Panicucci Chiara, Pedemonte Marina, Brolatti Noemi, Siliquini Sabrina, Traverso Monica, Baratto Serena, Debellis Doriana, Magri Stefania, Prada Valeria, Bellone Emilia, Salpietro Vincenzo, Donkervoort Sandra, Gable Kenneth, Gupta Sita D, Dunn Teresa M, Bönnemann Carsten G, Taroni Franco, Bruno Claudio, Schenone Angelo, Mandich Paola, Nobbio Lucilla, Nolano Maria
Abstract excerpt
AIMS: SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine. Recently, a juvenile form of motor neuron disease has been linked to SPTLC1 variants. Variants affecting the p.S331 residue of SPTLC1 cause a distinct phenotype, whose pathogenic...
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