{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T19:35:28Z","timestamp":1768678528947,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T00:00:00Z","timestamp":1671753600000},"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":[[2023,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>POLR3A<\/jats:italic> pathogenic variants are associated with hypomyelination, hypodontia, hypogonadism, and movement disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>We describe the range of movement disorders seen in six patients (four female, two male) with <jats:italic>POLR3A<\/jats:italic> variants [three novel (c.2214del, c.3775G&gt;A, c.3905G&gt;T) and six previously reported (c.760C&gt;T, c.1771\u20107C&gt;G, c.1909+22G&gt;A, c.2005C&gt;T, c.2422C&gt;T, c.3337\u201011T&gt;C)]. Patient 1 presented with a neonatal progeroid syndrome and developed parkinsonism, dystonia, ataxia, and spasticity. Patient 2 presented with infant\u2010onset rapidly progressive chorea, and dystonia. Three patients (patients 3, 5, 6) presented predominantly with ataxia in combination with spasticity and dystonia. Patient 4 developed segmental dystonia during adolescence and ataxia in early adulthood. Four patients had vertical gaze impairment. The most common brain MRI abnormality was T2\u2010weighted\/FLAIR hyperintensity of the superior cerebellar peduncles and midbrain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>POLR3A<\/jats:italic>\u2010related disorders exhibit significant phenotypic pleomorphism. Vertical gaze dysfunction and T2\u2010weighted\/FLAIR hyperintensity of the superior cerebellar peduncles and midbrain may be useful signs suggestive of this condition.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13635","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T13:10:58Z","timestamp":1670418658000},"page":"316-322","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Spectrum of Pediatric to Early Adulthood <scp><i>POLR3A<\/i>\u2010Associated<\/scp> Movement Disorders"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8172-3117","authenticated-orcid":false,"given":"Alonso","family":"Zea Vera","sequence":"first","affiliation":[{"name":"Department of Neurology Children's National Hospital  Washington DC USA"},{"name":"Department of Neurology George Washington University School of Medicine &amp; Health Sciences  Washington DC 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USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5969-6899","authenticated-orcid":false,"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Department of Neurology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8062-6959","authenticated-orcid":false,"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3389-136X","authenticated-orcid":false,"given":"Alberto J.","family":"Espay","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Cincinnati Gardner Neuroscience Institute  Cincinnati Ohio 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