{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T12:39:01Z","timestamp":1792240741983,"version":"4.4.0"},"reference-count":52,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100006309","name":"American Parkinson Disease Association","doi-asserted-by":"publisher","award":["1282403"],"award-info":[{"award-number":["1282403"]}],"id":[{"id":"10.13039\/100006309","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000304","name":"Parkinson's UK","doi-asserted-by":"publisher","award":["G\u20102401"],"award-info":[{"award-number":["G\u20102401"]}],"id":[{"id":"10.13039\/501100000304","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005189","name":"Estonian Research Competency Council","doi-asserted-by":"publisher","award":["PRG2040"],"award-info":[{"award-number":["PRG2040"]}],"id":[{"id":"10.13039\/501100005189","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>NKX2\u20101<\/jats:italic>\n                      \u2013related disorders result from heterozygous variants in\n                      <jats:italic>NKX2\u20101<\/jats:italic>\n                      , a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype\u2013phenotype relationships remain incompletely defined.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To delineate neurological, respiratory, and endocrine features across ages, characterize movement disorder trajectories \u2013 particularly chorea \u2013 and explore genotype\u2013phenotype associations with clinical relevance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a multicenter, cross\u2010sectional study recruiting participants through referral clinicians and European networks. Standardized clinical and genetic data were captured in an electronic database and analyzed with descriptive and inferential statistics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Sixty\u2010eight individuals (37 female; median age 16\u2009years, range 2\u201360\u2009years) were included. Motor delay was the commonest presenting feature (~60%); neonatal respiratory distress syndrome occurred in one\u2010third of cases. The brain\u2013lung\u2013thyroid triad was present in almost half. Chorea affected over 90% and began in early childhood; it was more frequent with single nucleotide variants than with deletions. Deletions are associated with better gross motor function. Frameshift or nonsense variants showed greater respiratory involvement, and variants in the exon\u20103 homeobox region were associated with age\u2010related reduction of chorea. Neonatal respiratory distress predicted later respiratory symptoms. Greater abnormal involuntary movement severity correlated with poorer manual and gross motor function. Hypotonia and untreated hypothyroidism are associated with more severe chorea. Psychiatric comorbidity occurred in over one\u2010third of cases, mainly attention\u2010deficit\/hyperactivity symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This largest cohort to date shows early neurological onset, genotype\u2010specific outcomes, and frequent psychiatric comorbidity in\n                      <jats:italic>NKX2\u20101<\/jats:italic>\n                      \u2010related disorders, refining clinical expectations and supporting genotype\u2010informed diagnosis, counseling, and management. \u00a9 2026 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.70187","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T11:44:29Z","timestamp":1768823069000},"page":"889-900","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["International Registry of\n                    <i>NKX2\u20101<\/i>\n                    \u2010Related Disorders: Clinical, Genetic, and Imaging Perspectives"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7381-3983","authenticated-orcid":false,"given":"Laia","family":"Nou\u2010Fontanet","sequence":"first","affiliation":[{"name":"Neurology Department, Coordinating Member of the ERN EpiCARE and ERN\u2010RND Member, Barcelona Children's Hospital Sant Joan de D\u00e9u University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Ravelli","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Neurogenetic Reference Centre for Rare Neurological Diseases Armand Trousseau Hospital APHP, Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydie","family":"Burglen","sequence":"additional","affiliation":[{"name":"Reference Center for Cerebellar Malformations and Congenital Diseases and Pediatric Neurogenetics Laboratory, Department of Genetics AP\u2010HP. Sorbonne University, Armand Trousseau Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol","family":"Balsells Mejia","sequence":"additional","affiliation":[{"name":"Statistician, Sant Joan de D\u00e9u Research Foundation University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Valls\u2010Villalba","sequence":"additional","affiliation":[{"name":"Internal Medicine Department Vall d'Hebron University Hospital, Universitat Autonoma de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elies Roman","family":"Schiffels","sequence":"additional","affiliation":[{"name":"Statistician, Sant Joan de D\u00e9u Research Foundation University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Innocenti","sequence":"additional","affiliation":[{"name":"Neurology, Epilepsy and Movement Disorders Unit Bambino Ges\u00f9 Children's Hospital, IRCCS, Full Member of EpiCARE  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Villafuerte","sequence":"additional","affiliation":[{"name":"Thyroid Molecular Laboratory Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ainara","family":"Salazar\u2010Villacorta","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences Department UCL GOS Institute of Child Health\/Zayed Center for Research into Rare Disease in Children  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente","family":"Quiroz","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Boston Children's Hospital, Boston, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Sariego Jamardo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Marques de Valdecilla University Hospital  Santander Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Bonato","sequence":"additional","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Department of Neuroscience, Centre for Rare Neurological Diseases (ERN\u2010RND) University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asun","family":"D\u00edaz\u2010Gomez","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Hospital de la Santa Creu i Sant Pau,\u00a0Universitat Aut\u00f2noma de\u00a0Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[{"name":"Reference Center for Cerebellar Malformations and Congenital Diseases and Pediatric Neurogenetics Laboratory, Department of Genetics AP\u2010HP. 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