{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:45:02Z","timestamp":1790775902298,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,1,10]],"date-time":"2020-01-10T00:00:00Z","timestamp":1578614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008211","name":"Association France Parkinson","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008211","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":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report patients with early\u2010onset dystonia parkinsonism as a result of loss\u2010of\u2010function mutations in <jats:italic>nuclear receptor subfamily 4 group A member 2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Phenotypic characterization and exome sequencing were carried out in 2 families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The 2 patients reported here both had a history of mild intellectual disability in childhood and subsequently developed dystonia parkinsonism in early adulthood. Brain magnetic resonance imaging was normal, and DATscan suggested bilateral dopaminergic denervation. Two frameshift mutations in <jats:italic>NR4A2<\/jats:italic> were identified: a de novo insertion (NM_006186.3; c.326dupA) in the first case and another small insertion (NM_006186.3; c.881dupA) in the second.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>NR4A2<\/jats:italic> haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and\/or parkinsonism may appear years after initial symptoms. Mutations in <jats:italic>NR4A2<\/jats:italic> should be considered in patients with unexplained dystonia parkinsonism. \u00a9 2020 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.27982","type":"journal-article","created":{"date-parts":[[2020,1,10]],"date-time":"2020-01-10T07:45:24Z","timestamp":1578642324000},"page":"880-885","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Loss\u2010of\u2010Function Mutations in <i>NR4A2<\/i> Cause Dopa\u2010Responsive Dystonia Parkinsonism"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4427-5765","authenticated-orcid":false,"given":"Thomas","family":"Wirth","sequence":"first","affiliation":[{"name":"D\u00e9partement de neurologie, H\u00f4pital de Hautepierre H\u00f4pitaux Universitaires de Strasbourg  Strasbourg 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