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In this study, we reported eight new cases, <jats:italic>POLR3A<\/jats:italic>\u2010related disorder with c.1909+22 variant. One of these patients showed expanded phenotypic spectrum of generalised dystonia and her sister remained asymptomatic except for hypodontia. Two patients with dystonic arm tremor responded to deep brain stimulation. In our systemic literature review, we found that <jats:italic>POLR3A<\/jats:italic>\u2010related disorder with c.1909+22 variant has attenuated disease severity but frequency of dystonia and upper limb tremor did not differ among genotypes.<\/jats:p>","DOI":"10.1002\/acn3.52064","type":"journal-article","created":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T11:08:26Z","timestamp":1714734506000},"page":"1636-1642","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>POLR3A\u2010related<\/scp> disorders: From spastic ataxia to generalised dystonia and long\u2010term efficacy of deep brain stimulation"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6284-9163","authenticated-orcid":false,"given":"Wai Yan","family":"Yau","sequence":"first","affiliation":[{"name":"Perron Institute for Neurological and Translational Science The University of Western Australia  Nedlands Western 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