{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:49:46Z","timestamp":1760986186624,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>Hereditary sensory neuropathy (HSN) 1E is a neurodegenerative disorder caused by pathogenic variants in DNA methyltransferase 1 (<jats:italic>DNMT1<\/jats:italic>). It is characterised by sensorineural deafness, sensory neuropathy and cognitive decline. Variants in <jats:italic>DNMT1<\/jats:italic> are also associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 42\u2010year\u2010old man presented with imbalance, lancinating pain, numerous paucisymptomatic injuries, progressive deafness since his mid\u201020s, mild cognitive decline and apathy. Examination revealed abnormalities of eye movements, distal sensory loss to all modalities, areflexia without weakness and lower limb ataxia. MRI brain and FDG\u2010PET scan demonstrated biparietal and cerebellar atrophy\/hypometabolism. Whole exome sequencing detected a heterozygous likely pathogenic missense variant in <jats:italic>DNMT1<\/jats:italic>, c.1289G\u2009&gt;\u2009A, p.Cys430Tyr. Cochlear implant was performed at 44\u2009years for the bilateral high frequency sensorineural hearing loss with improvement in hearing and day\u2010to\u2010day function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and Conclusion<\/jats:title><jats:p>We describe a novel variant in <jats:italic>DNMT1<\/jats:italic> and confirm that an overlapping HSN1E\u2010cerebellar phenotype can occur. Only one prior case of cochlear implant in HSN1E has been reported to date but this case adds to that literature, suggesting that cochlear implant can be successful in such patients. We further explore the clinical and radiological signature of the cognitive syndrome associated with this disorder.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.12560","type":"journal-article","created":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T14:20:37Z","timestamp":1684419637000},"page":"508-512","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<scp>DNMT1<\/scp>\u2010associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype\u2013phenotype correlation"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0739-3313","authenticated-orcid":false,"given":"Poornima Jayadev","family":"Menon","sequence":"first","affiliation":[{"name":"Department of Neurology Tallaght University Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8944-4921","authenticated-orcid":false,"given":"Petya","family":"Bogdanova\u2010Mihaylova","sequence":"additional","affiliation":[{"name":"Department of Neurology Tallaght University Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Garret","family":"McDermott","sequence":"additional","affiliation":[{"name":"Department of Neuropsychology Tallaght University Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Crowley","sequence":"additional","affiliation":[{"name":"Department of Neurology Aut Even Hospital  Kilkenny Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronan P.","family":"Killeen","sequence":"additional","affiliation":[{"name":"Department of Radiology St. Vincent's University Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael D.","family":"Alexander","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology Tallaght University Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean","family":"O'Dowd","sequence":"additional","affiliation":[{"name":"Department of Neurology Tallaght University Hospital  Dublin Ireland"},{"name":"Academic Unit of Neurology Trinity College Dublin  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sin\u00e9ad M.","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Neurology Tallaght University Hospital  Dublin Ireland"},{"name":"Academic Unit of Neurology Trinity College Dublin  Dublin 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