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Article

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

Clinical neurology and neurosurgery - 1 Dec 2006

Lindahl Andrea J, Lhatoo Sam D, Campbell Malcolm J, Nicholson Garth, Love Seth

Abstract excerpt

There is little published information on the autopsy findings in hereditary sensory neuropathy type I (HSN I), and none in genetically confirmed cases. We report the neuropathological findings in a 93-year-old woman with a disease of unusually late onset, who was part of a large HSN I kindred and in whom genetic analysis confirmed an SPTLC1 T399G mutation.

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Source

Identifiers

PMID: 16271825
DOI: 10.1016/j.clineuro.2005.09.009

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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