{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T01:55:13Z","timestamp":1784339713124,"version":"3.55.0"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T00:00:00Z","timestamp":1695772800000},"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":["Euro J of Neurology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Tay\u2212Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in \u03b2\u2010hexosaminidase leads to accumulation of GM2 ganglioside resulting in neuronal swelling and degeneration. Typical onset is in infancy with developmental regression and early death. Late\u2010onset Tay\u2212Sachs disease (LOTS) is extremely rare, especially in the non\u2010Ashkenazi Jewish population, and is characterized by a more indolent presentation typically encompassing features of cerebellar and anterior horn cell dysfunction in addition to extrapyramidal and neuropsychiatric symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>A case series of four unrelated patients of non\u2010Ashkenazi Jewish origin with a predominantly, and in some cases pure, neuromuscular phenotype with evidence of a motor neuronopathy on electromyography is presented. Cerebellar atrophy, reported to be a ubiquitous feature in LOTS, was absent in all patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case series provides evidence to support a pure neuromuscular phenotype in LOTS, which should be considered in the differential diagnosis of anterior horn cell disorders.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16069","type":"journal-article","created":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T13:02:01Z","timestamp":1695819721000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp>Late\u2010onset Tay\u2212Sachs<\/scp> disease presenting with a neuromuscular phenotype\u2014a case series"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9657-5823","authenticated-orcid":false,"given":"Sarah","family":"Fullam","sequence":"first","affiliation":[{"name":"Department of Neurology Tallaght University 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Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.16069","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T10:17:45Z","timestamp":1710929865000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.16069"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,27]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1111\/ene.16069"],"URL":"https:\/\/doi.org\/10.1111\/ene.16069","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,27]]},"assertion":[{"value":"2023-04-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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