{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:26:33Z","timestamp":1791293193045,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,2,24]],"date-time":"2014-02-24T00:00:00Z","timestamp":1393200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Late\u2010onset Tay\u2010Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta\u2010hexosaminidase A activity. <jats:italic>Methods<\/jats:italic>: We describe a 53\u2010year\u2010old woman who presented with adult\u2010onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid\u2010life prompted reassessment. <jats:italic>Results<\/jats:italic>: Beta\u2010hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the <jats:italic>HEXA<\/jats:italic> gene, confirming the diagnosis of LOTS. <jats:italic>Conclusions<\/jats:italic>: The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>49<\/jats:bold>: 768\u2013771, 2014<\/jats:p>","DOI":"10.1002\/mus.24146","type":"journal-article","created":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T03:42:36Z","timestamp":1386733356000},"page":"768-771","source":"Crossref","is-referenced-by-count":35,"title":["Atypical presentation of late\u2010onset Tay\u2010sachs disease"],"prefix":"10.1002","volume":"49","author":[{"given":"Andres","family":"Deik","sequence":"first","affiliation":[{"name":"Department of Neurology Beth Israel Medical Center New York New York USA"},{"name":"University of Pennsylvania Parkinson Disease and Movement Disorders Center, 330 S. 9th Street, 2nd Floor, Suite 219 Philadelphia Pennsylvania 19107 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Saunders\u2010Pullman","sequence":"additional","affiliation":[{"name":"Department of Neurology Beth Israel Medical Center New York New York USA"},{"name":"Department of Neurology Albert Einstein College of Medicine Bronx New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,24]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"1198","article-title":"A second mutation associated with apparent beta\u2010hexosaminidase A pseudodeficiency: identification and frequency estimation","volume":"53","author":"Cao Z","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000233847.72349.b6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21565"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-71"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-83"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.50.5262"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-35"},{"key":"e_1_2_6_9_1","first-page":"937","article-title":"[Spinocerebellar ataxia type 36 (nicknamed asidan)]","volume":"64","author":"Abe K","year":"2012","journal-title":"Brain Nerve"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182815529"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1927"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000224878.22821.23"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.177089"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.147645"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21061"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2009000100024"},{"key":"e_1_2_6_17_1","first-page":"347","article-title":"Late\u2010onset Tay\u2010Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues","volume":"56","author":"Rosebush PI","year":"1995","journal-title":"J Clin Psychiatry"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a1b5c5"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.09.004"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24146","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24146","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24146","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T15:15:50Z","timestamp":1696346150000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,24]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1002\/mus.24146"],"URL":"https:\/\/doi.org\/10.1002\/mus.24146","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,24]]}}}