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SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.

Neurology - 23 Mar 2004

Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin J J, Timmerman V, De Jonghe P

Abstract excerpt

Hereditary sensory neuropathy type I (HSN I) is an autosomal dominant ulceromutilating disorder of the peripheral nervous system characterized by progressive sensory loss. HSN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long-chain base subunit 1 (SPTLC1). A novel missense mutation in exon 13 of the SPTLC1 gene (c.1160G-->C; p.G387A) in twin...

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Identifiers

PMID: 15037712
DOI: 10.1212/01.wnl.0000115388.10828.5c

Genes

SPTLC1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.PMID 15037712Read ↗

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.Semantic proximity Read ↗

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The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.Semantic proximity Read ↗

Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings.Semantic proximity Read ↗

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