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Article

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

Neurogenetics - 1 Apr 2009

Hornemann Thorsten, Penno Anke, Richard Stephane, Nicholson Garth, van Dijk Fleur S, Rotthier Annelies, Timmerman Vincent, von Eckardstein Arnold

Abstract excerpt

Hereditary sensory neuropathy type 1 (HSAN I) is an autosomal dominant inherited neurodegenerative disorder of the peripheral nervous system associated with mutations in the SPTLC1 subunit of the serine palmitoyltransferase (SPT). Four missense mutations (C133W, C133Y, V144D and G387A) in SPTLC1 were reported to cause HSAN I. SPT catalyses the condensation of Serine and Palmitoyl-CoA, which is the first and...

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Source

Identifiers

PMID: 19132419
DOI: 10.1007/s10048-008-0168-7

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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A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.PMID 19132419Read ↗

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