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Article

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.

Journal of medical genetics - 1 Feb 2011

Carvalho Ofélia P, Thornton Gemma K, Hertecant Joseph, Houlden Henry, Nicholas Adeline K, Cox James J, Rielly Mary, Al-Gazali Lihadh, Woods C Geoffrey

Abstract excerpt

BACKGROUND: Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic mutations in the TRKA gene (NTRK1) (HSAN4), share only some clinical features. A...

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Identifiers

PMID: 20978020
DOI: 10.1136/jmg.2010.081455
PMCID: PMC3030776

Genes

NGF
NTRK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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