{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T14:51:48Z","timestamp":1788360708698,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T00:00:00Z","timestamp":1515542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fred Lovejoy Research and Education Fund"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p><jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/onlinelibrary.wiley.com\/journal\/10.1002\/(ISSN)2330-1619\/homepage\/mdc312573-sup-v0001.htm\">View Supplementary Video 1<\/jats:ext-link><\/jats:p><\/jats:sec><jats:sec><jats:title>Background<\/jats:title><jats:p>Movement disorders are a significant clinical problem in lysosomal storage diseases (<jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content>) and account for substantial morbidity. The spectrum of movement disorders in childhood\u2010onset <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content>, however, remains poorly defined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To define the spectrum of movement disorders in a well\u2010characterized cohort of children with <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective chart review at a single tertiary care center (Boston Children's Hospital). Patients up to the age of 18 years with a clinical, genetic, and\/or biochemical diagnosis of an <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content> and at least one predefined movement disorder (parkinsonism, dystonia, ataxia, tremor, chorea, myoclonus, ballism, restless leg syndrome) were included.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ninety\u2010six patients were identified and 76 patients had a sufficiently document biochemical and\/or genetic diagnosis. Of these, 18 patients met inclusion criteria (mean age: 10.3 \u00b1 5.8 [<jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content>] years, range: 3\u201318 years; 72% male). The most common <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content> associated with a movement disorder was Niemann\u2010Pick disease type C (<jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>), followed by several types of neuronal ceroid lipofuscinosis (<jats:styled-content style=\"fixed-case\">NCL<\/jats:styled-content>), and different mucopolysaccharidoses. The most common movement disorder was ataxia followed by rest tremor, dystonia, and myoclonus. The other predefined movement disorders were rare. The majority of patients presented with more than one movement disorder. The movement disorder was slowly progressive in all patients. Brain <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> changes included diffuse cerebral volume loss, white matter abnormalities with thinning of the corpus callosum, and cerebellar atrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Movement disorders develop in a significant number of <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content> patients. Ataxia, often in patients with <jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">NCL<\/jats:styled-content>, is the most common phenotype but significant heterogeneity exists within and between different <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.12573","type":"journal-article","created":{"date-parts":[[2017,12,10]],"date-time":"2017-12-10T02:28:44Z","timestamp":1512872924000},"page":"149-155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The Spectrum of Movement Disorders in Childhood\u2010onset Lysosomal Storage Diseases"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0026-4714","authenticated-orcid":false,"given":"Darius","family":"Ebrahimi\u2010Fakhari","sequence":"first","affiliation":[{"name":"Department of Neurology Boston Children's 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Medicine Boston Children's Hospital Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Anselm","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Bodamer","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Department of Medicine Boston Children's Hospital Harvard Medical School Boston Massachusetts USA"},{"name":"Broad Institute of MIT and Harvard University Cambridge Massachusetts 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