{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T08:12:33Z","timestamp":1785831153753,"version":"3.56.0"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,6,30]],"date-time":"2015-06-30T00:00:00Z","timestamp":1435622400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"University of Utah Department of Neurology"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Late\u2010onset Tay\u2010Sachs disease (\n                    <jats:styled-content style=\"fixed-case\">LOTS<\/jats:styled-content>\n                    ) is a rare autosomal\u2010recessive genetic disorder caused by insufficient activity of the lysosomal enzyme, beta\u2010hexosaminidase A, resulting in intracellular accumulation of gangliosides in the central nervous system. Clinical manifestations can include unsteadiness in gait, muscle weakness, cognitive dysfunction, psychiatric disturbance, and dysarthric speech. The variable presentation of these symptoms, combined with the late onset of the disease, often results in misdiagnosis. We present video of 3 sibling cases of\n                    <jats:styled-content style=\"fixed-case\">LOTS<\/jats:styled-content>\n                    in which a dysarthric stutter was the sole presenting symptom in order to better characterize the phenotype of this disease.\n                  <\/jats:p>","DOI":"10.1002\/mdc3.12194","type":"journal-article","created":{"date-parts":[[2015,6,30]],"date-time":"2015-06-30T08:26:49Z","timestamp":1435652809000},"page":"289-290","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Dysarthria and Stutter as Presenting Symptoms of Late\u2010Onset Tay\u2010Sachs Disease in Three Siblings"],"prefix":"10.1002","volume":"2","author":[{"given":"Kristina K.","family":"Grim","sequence":"first","affiliation":[{"name":"Department of Neurology University of Utah Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory D.","family":"Phillips","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Utah Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Renner","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Utah Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2009000100024"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00233-X"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0588"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.147645"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.1207"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000154300.84107.75"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.06.030"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-006-3097-z"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12194","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12194","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12194","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T18:48:20Z","timestamp":1762282100000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12194"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,30]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1002\/mdc3.12194"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12194","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,30]]},"assertion":[{"value":"2015-03-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-04-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-06-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}