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Article

DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation.

Journal of the peripheral nervous system : JPNS - 1 Sept 2023

Menon Poornima Jayadev, Bogdanova-Mihaylova Petya, McDermott Garret, Crowley Paul, Killeen Ronan P, Alexander Michael D, O'Dowd Sean, Murphy Sinéad M

Abstract excerpt

AIM: Hereditary sensory neuropathy (HSN) 1E is a neurodegenerative disorder caused by pathogenic variants in DNA methyltransferase 1 (DNMT1). It is characterised by sensorineural deafness, sensory neuropathy and cognitive decline. Variants in DNMT1 are also associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy. METHODS: A 42-year-old man presented with imbalance, lancinating pain, numerous...

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Identifiers

PMID: 37199681
DOI: 10.1111/jns.12560

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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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