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Article

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

Neurology - 4 Jun 2013

Murphy Sinéad M, Ernst Daniela, Wei Yu, Laurà Matilde, Liu Yo-Tsen, Polke James, Blake Julian, Winer John, Houlden Henry, Hornemann Thorsten, Reilly Mary M

Abstract excerpt

OBJECTIVE: To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation. METHODS: We screened 107 patients with HSAN who were negative for other genetic causes for mutations in SPTLC2. The biochemical properties of a new mutation were...

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Source

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Identifiers

PMID: 23658386
DOI: 10.1212/WNL.0b013e318295d789
PMCID: PMC3716354

Genes

SPTLC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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