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Demyelination in hereditary sensory neuropathy type-1C
Sadaf Saba1, Yongsheng Chen2, Krishna Rao Maddipati3
1Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan.
Annals of Clinical and Translational Neurology
|July 31, 2020
Summary
Mutations in SPTLC2 cause Hereditary Sensory Neuropathy Type-1C (HSN1C), leading to neurotoxic deoxysphingolipids (DoxSLs) and peripheral nerve damage. This study reveals a diverse range of DoxSLs and a demyelinating nerve phenotype in HSN1C patients.
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- Sphingolipids are crucial for nerve function, with Serine-palmitoyltransferase (SPT) regulating their biosynthesis.
- Mutations in SPT subunits (SPTLC) cause Hereditary Sensory Neuropathy Type-1C (HSN1C), characterized by neurotoxic deoxysphingolipids (DoxSLs) and peripheral neuropathy.
Observation:
- A family with an SPTLC2 N177D mutation exhibited sensory-motor deficits and nonuniform nerve conduction slowing.
- Quantitative MRI revealed nerve changes consistent with acquired demyelinating polyneuropathies.
Findings:
- The N177D mutation in SPTLC2 segregated with the neuropathy phenotype.
- Plasma analysis showed elevated levels of various deoxysphingoid bases and deoxyceramides in affected individuals.
- Nerve conduction studies and qMRI indicated a demyelinating neuropathy.
Implications:
- SPTLC2 mutations induce a demyelinating phenotype that mimics acquired demyelinating polyneuropathy.
- The spectrum of deoxysphingolipids implicated in HSN1C may be broader than previously understood, offering new diagnostic and therapeutic targets.
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