Photo by satheeshsankaran from unsplash
Sphingolipids are enriched in the nerves. Serine‐palmitoyltransferase (SPT) catalyzes the key step of sphingolipids biosynthesis. Mutations in SPT subunits (SPTLC) lead to the excessive production of neurotoxic deoxysphingolipids (DoxSLs) in… Click to show full abstract
Sphingolipids are enriched in the nerves. Serine‐palmitoyltransferase (SPT) catalyzes the key step of sphingolipids biosynthesis. Mutations in SPT subunits (SPTLC) lead to the excessive production of neurotoxic deoxysphingolipids (DoxSLs) in patients with Hereditary Sensory Neuropathy Type‐1C (HSN1C). HSN1C is an autosomal dominant peripheral neuropathy characterized by sensory loss and distal muscle weakness. In this study, by leveraging a HSN1C family with a previously reported N177D mutation in SPTLC2, we aim to further define the spectrum of DoxSL species and the peripheral neve pathology of the disease.
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!