{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T18:36:46Z","timestamp":1772995006397,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:00:00Z","timestamp":1761523200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:00:00Z","timestamp":1761523200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Allan\u2010Herndon\u2010Dudley syndrome (AHDS)\/monocarboxylate transporter 8 (MCT8) deficiency is a rare X\u2010linked encephalopathy caused by\n                      <jats:italic>SLC16A2<\/jats:italic>\n                      variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation. Dopaminergic circuit involvement is suggested by both pathophysiology and clinical features, reminiscent of infantile parkinsonism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study investigates dopamine metabolism and levodopa\/carbidopa response in MCT8 patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively and prospectively collected clinical, genetic, and neuroimaging data, performed cerebrospinal fluid (CSF) biogenic amine analyses, and conducted neurological assessments before and after the levodopa trial (10\u2009mg\/kg\/day).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Ten patients exhibited developmental delay, spasticity, and infantile parkinsonism. CSF analysis showed reduced homovanillic acid in 3\/10 patients, with 7\/10 in the lowest quartile. Levodopa improved parkinsonism and reactivity in 7\/10 patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our findings confirm dopaminergic involvement in AHDS and show that levodopa\/carbidopa effectively treats extrapyramidal symptoms. Further investigations could differentiate presynaptic and postsynaptic defects to optimize dopaminergic therapy. \u00a9 2025 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70093","type":"journal-article","created":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T04:16:17Z","timestamp":1761624977000},"page":"509-514","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Altered Dopamine Metabolism and Response to Treatment with Levodopa\/Carbidopa in MCT8 Deficiency"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4419-7381","authenticated-orcid":false,"given":"Fabio","family":"Bruschi","sequence":"first","affiliation":[{"name":"Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies) V. Buzzi Children's Hospital  Milan Italy"},{"name":"Department of Biomedical and Clinical Sciences Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ylenia","family":"Vaia","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies) V. Buzzi Children's Hospital  Milan Italy"},{"name":"Department of Biomedical and Clinical Sciences Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara E.","family":"Antonello","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies) V. Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Spada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Torino  Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Porta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Torino  Torino Italy"},{"name":"Department of Clinical and Biological Sciences University of Torino  Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Marinaccio","sequence":"additional","affiliation":[{"name":"Child and Adolescence Neuropsychiatry Service, Department of Child Pathology and Cure Regina Margherita Children's Hospital  Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Carducci","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine Sapienza University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Opladen","sequence":"additional","affiliation":[{"name":"Heidelberg University Medical Faculty, Heidelberg Center for Pediatric and Adolescent Medicine Department I Division of Pediatric Neurology and Metabolic Medicine  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacopo","family":"Sartorelli","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Diseases Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica Maria","family":"Zibordi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Ghezzi","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"},{"name":"Department of Pathophysiology and Transplantation University of Milan  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Nicita","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Diseases Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Tonduti","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies) V. Buzzi Children's Hospital  Milan Italy"},{"name":"Department of Biomedical and Clinical Sciences Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(20)30153-4"},{"key":"e_1_2_9_3_1","first-page":"723","article-title":"Monocarboxylate transporter 8 deficiency: from pathophysiological understanding to therapy development","volume":"12","author":"Geest FS","year":"2021","journal-title":"Front Endocrinol"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812450944"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2004-1179"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-020-02603-y"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.12.003"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.10.002"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.2147\/NDT.S379703"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.30152"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0306-4522(90)90340-A"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2011.207290"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1530\/JOE-14-0025"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11030524"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2019.03.027"},{"key":"e_1_2_9_16_1","volume-title":"Contemporary Clinical Neuroscience","author":"Shimokawa N","year":"2016"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24043207"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.70093","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.70093","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.70093","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T15:27:32Z","timestamp":1772983652000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.70093"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,27]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/mds.70093"],"URL":"https:\/\/doi.org\/10.1002\/mds.70093","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,27]]},"assertion":[{"value":"2025-03-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}