{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:25Z","timestamp":1791293125172,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2012,10,31]],"date-time":"2012-10-31T00:00:00Z","timestamp":1351641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Cerebrotendinous xanthomatosis (CTX) is an inherited neurometabolic disorder. The main neurological manifestations of the disease are pyramidal syndrome, ataxia, peripheral neuropathy, cognitive impairment, epilepsy, and psychiatric disturbances. Myoclonic dystonia has been reported on in the setting of various neurometabolic diseases. Anecdotal reports describe movement disorders associated with CTX, but no dystonia with myoclonic events.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>We collected clinical, biochemical, electrophysiological, neuroradiological, and genetic data of 6 patients with myoclonus and mild dystonia associated with CTX. From a systematic literature review, we analyzed 31 patients with movement disorders secondary to CTX.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Our 6 patients presented distal myoclonus with mild dystonia of the upper limbs. Myoclonus was of subcortical origin, based on neurophysiological recordings, and differed from oromandibular myoclonus previously described in CTX patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>These results expand the phenotype of CTX and suggest that myoclonus and\/or dystonia are underdiagnosed. In keeping with our findings, tremors previously observed in CTX patients might actually correspond to myoclonic events. We hypothesize that a dysfunction of the dentate nuclei\u2010basal ganglia pathway may be involved. \u00a9 2012 Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25206","type":"journal-article","created":{"date-parts":[[2012,10,31]],"date-time":"2012-10-31T21:21:44Z","timestamp":1351718504000},"page":"1805-1810","source":"Crossref","is-referenced-by-count":35,"title":["Myoclonus and dystonia in cerebrotendinous xanthomatosis"],"prefix":"10.1002","volume":"27","author":[{"given":"Julien","family":"Lagarde","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Apartis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepa","family":"Pothalil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Sedel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Couvert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vidailhet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Degos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,10,31]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738030180091001"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.5.908"},{"key":"e_1_2_8_4_2","first-page":"209","volume-title":"Hyperkinetic Movement Disorders: Diagnosis Etiology And Treatment","author":"Roze E","year":"2012"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000297516.98574.c0"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.7.825"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511977749.024"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20593"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22313"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(91)90073-G"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10287"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(200009)15:5<1017::AID-MDS1043>3.0.CO;2-F"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22979"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.67.2.195"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.53.1.76"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(00)00441-X"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(96)00011-1"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine1962.30.189"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0729-6"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.4.520"},{"key":"e_1_2_8_21_2","first-page":"541","article-title":"Cerebrotendinous xanthomatosis. 2 cases with magnetic resonance imaging","volume":"148","author":"Rogelet P","year":"1992","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_8_22_2","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1001\/archderm.1986.01660230061011","article-title":"Capillary gas chromatography of urine samples in diagnosing cerebrotendinous xanthomatosis","volume":"122","author":"Bavinck JNB","year":"1986","journal-title":"Arch Dermatol"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2011.06.004"},{"key":"e_1_2_8_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25229"},{"key":"e_1_2_8_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00314598"},{"key":"e_1_2_8_26_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000280460.28039.3d"},{"key":"e_1_2_8_27_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1969.00480180059004"},{"key":"e_1_2_8_28_2","first-page":"276","article-title":"Inherited cholesterol lipidosis: cerebrotendinous xanthomatosis (van Bogaert Scherer Epstein disease). 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