{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:51Z","timestamp":1781613711364,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T00:00:00Z","timestamp":1709769600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Deficiencies in the thyroid hormone transporter monocarboxylate 8 (MCT8) due to pathogenic variants in the <jats:italic>SLC16A2<\/jats:italic> gene (OMIM 300095) result in a complex phenotype with main endocrine and neurologic symptoms. This rare disorder, named Allan\u2013Herndon\u2013Dudley syndrome (AHDS) (OMIM 300523), is inherited in an X\u2010linked trait. One of the prominent features of AHDS is the presence of movement disorders (MD), which are complex and carry a significant burden of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>Patient 1: male with hypotonia since birth, developmental delay, dystonic posturing at 4\u2009months and at 15\u2009months, and startle reaction developed with sensory stimuli. Patient 2: male, at 2\u2009months, shows hypotonia and developmental delay, paroxysmal episodes triggered by a stimulus with sudden blush, tonic asymmetric posture, and no epileptiform activity. At 10\u2009months, generalized dystonic posturing. Patient 3: typical neurodevelopmental milestones until 6\u2009months; at 24\u2009months, dystonia, startle reaction, and upper motoneuron signs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We aim to describe our patients diagnosed with AHDS, focusing on MD phenomenology and strengthening the phenotype\u2013genotype correlations for this rare condition.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.14009","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T23:59:16Z","timestamp":1709855956000},"page":"567-570","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan\u2013Herndon\u2013Dudley Syndrome"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-2380","authenticated-orcid":false,"given":"Jorge Luis","family":"Ramon\u2010Gomez","sequence":"first","affiliation":[{"name":"Pediatric Movement Disorders Instituto Roosevelt Bogot\u00e1  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Camila","family":"Cort\u00e9s\u2010Rojas","sequence":"additional","affiliation":[{"name":"Hospital Militar Central  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jose","family":"Polania\u2010Puentes","sequence":"additional","affiliation":[{"name":"Hospital Militar Central  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graciela Del Pilar","family":"Guerrero\u2010Ruiz","sequence":"additional","affiliation":[{"name":"Child Neurology Department Chief, Hospital Militar Central Universidad Militar Nueva Granada  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.12.003"},{"key":"e_1_2_8_3_1","unstructured":"GroenewegS vanGeestFS Dolcetta\u2010CapuzzoA M StalsMA VisserWE Abac\u0131A et al.Disease characteristics of MCT8 deficiency: an international retrospective multicentre cohort study.2020;8(7):594\u2013605."},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2020.00380"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2022.100879"},{"key":"e_1_2_8_6_1","first-page":"1664","article-title":"Transport, metabolism, and function of thyroid hormones in the developing mammalian brain","volume":"10","author":"Stepien Barbara K","year":"2019","journal-title":"Front Endocrinol"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.08.001"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03344003"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(19)30155-X"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14332"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-020-03459-w"}],"updated-by":[{"DOI":"10.1002\/mdc3.70387","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T00:00:00Z","timestamp":1760486400000}}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.14009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:52:56Z","timestamp":1760953976000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.14009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,7]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/mdc3.14009"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.14009","archive":["Portico"],"relation":{"erratum":[{"id-type":"doi","id":"10.1002\/mdc3.70387","asserted-by":"object"}]},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,7]]},"assertion":[{"value":"2023-09-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}