{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:48:52Z","timestamp":1757612932713,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2024,2,18]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>An 18-year-old man had episodes of severe generalised dystonia, from aged 7 months and becoming progressively more frequent. He also had gradually developed interictal limb dystonia. He was initially diagnosed with paroxysmal kinesigenic dyskinesia but he did not improve with several medications. A levodopa trial led to levodopa-induced dyskinetic movements. However, a lower titration of 25\u2009mg of levodopa two times per day substantially improved his motor features and quality of life. Laboratory investigations and MR scans of the brain were unremarkable. Whole-exome sequencing identified a pathogenic variant in the <jats:italic>ATP1A3<\/jats:italic> gene. The <jats:italic>ATP1A3<\/jats:italic>-spectrum disorders include non-classical phenotypes such as paroxysmal dystonic attacks. A response to dopamine response is unusual in these disorders. This case highlights the importance of levodopa trials in early-onset dystonia cases.<\/jats:p>","DOI":"10.1136\/pn-2023-004045","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T13:22:47Z","timestamp":1709817767000},"page":"326-328","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Dopa-responsive dystonia and paroxysmal dystonic attacks associated with <i>ATP1A3<\/i> gene variant"],"prefix":"10.1136","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3725-4464","authenticated-orcid":false,"given":"M\u00edriam Carvalho","family":"Soares","sequence":"first","affiliation":[{"name":"Department of Neurology, Hospital das Cl\u00ednicas, Federal University of Pernambuco, Recife, Brazil"},{"name":"Department of Neurology, Hospital das Cl\u00ednicas, University of S\u00e3o Paulo Medical School, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacy Bezerra","family":"Parmera","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital das Cl\u00ednicas, University of S\u00e3o Paulo Medical School, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos Eug\u00eanio Ramalho","family":"Bezerra","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital das Cl\u00ednicas, Federal University of Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rubens Gisbert","family":"Cury","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital das Cl\u00ednicas, University of S\u00e3o Paulo Medical School, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,3,7]]},"reference":[{"key":"2025090409324830000_24.4.326.1","doi-asserted-by":"crossref","unstructured":"Salles PA , Mata IF , Br\u00fcnger T , et al . 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Clinical profile of patients with Atp1A3 mutations in alternating Hemiplegia of childhood - A study of 155 patients. 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