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Article

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

Nature genetics - 1 Mar 2001

Dawkins J L, Hulme D J, Brahmbhatt S B, Auer-Grumbach M, Nicholson G A

Abstract excerpt

Hereditary sensory neuropathy type I (HSN1) is the most common hereditary disorder of peripheral sensory neurons. HSN1 is an autosomal dominant progressive degeneration of dorsal root ganglia and motor neurons with onset in the second or third decades. Initial symptoms are sensory loss in the feet followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal...

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Source

Identifiers

PMID: 11242114
DOI: 10.1038/85879

Genes

SPTLC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.PMID 11242114Read ↗

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.Semantic proximity Read ↗

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Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.Semantic proximity Read ↗

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Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.Semantic proximity Read ↗

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.Semantic proximity Read ↗

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.Semantic proximity Read ↗

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.Semantic proximity Read ↗

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

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