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Recently, a de novo heterozygous\n                      <jats:italic>NACC1 (<\/jats:italic>\n                      nucleus accumbens\u2010associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      The objective is to characterize the movement disorder in affected patients with the recurrent c.892C&gt;T\n                      <jats:italic>NACC1<\/jats:italic>\n                      variant and study the NACC1 protein and mitochondrial function at the cellular level.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The movement disorder was analyzed on four patients with the\n                      <jats:italic>NACC1<\/jats:italic>\n                      c.892C&gt;T (p.Arg298Trp) variant. Studies on NACC1 protein and mitochondrial function were performed on patient\u2010derived fibroblasts.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All patients had a generalized hyperkinetic movement disorder with chorea and dystonia, which occurred cyclically and during sleep. Complex I was found altered, whereas the other OXPHOS enzymes and the mitochondria network seemed intact in one patient.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The movement disorder is a prominent feature of NACC1\u2010related disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.14051","type":"journal-article","created":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T00:55:30Z","timestamp":1714697730000},"page":"708-715","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Hyperkinetic Movement Disorder Caused by the Recurrent c.\n                    <scp>892C<\/scp>\n                    &gt;T\n                    <scp>\n                      <i>NACC1<\/i>\n                    <\/scp>\n                    Variant"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3876-9830","authenticated-orcid":false,"given":"Jonna","family":"Komulainen\u2010Ebrahim","sequence":"first","affiliation":[{"name":"Research Unit of Clinical Medicine University of Oulu  Oulu Finland"},{"name":"Medical Research Center Oulu University Hospital, University of Oulu  Oulu Finland"},{"name":"Department of Children and Adolescents, Division of Pediatric Neurology Oulu University Hospital  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salla M.","family":"Kangas","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine University of Oulu  Oulu Finland"},{"name":"Medical Research Center Oulu University Hospital, University of Oulu  Oulu Finland"},{"name":"Biocenter Oulu, University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estrella","family":"L\u00f3pez\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"Institute of Rare Diseases Research, Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy","family":"Feyma","sequence":"additional","affiliation":[{"name":"Gillette Children's Specialty Healthcare  Saint Paul Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Joint BCM\u2010CUHK Center of Medical Genetics, Prince of Wales Hospital  Shatin Hong 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Technology University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucinda","family":"Carr","sequence":"additional","affiliation":[{"name":"Department of Neurology Great Ormond Street Hospital  London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reetta","family":"Hinttala","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine University of Oulu  Oulu Finland"},{"name":"Medical Research Center Oulu University Hospital, University of Oulu  Oulu Finland"},{"name":"Biocenter Oulu, University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3529-5075","authenticated-orcid":false,"given":"Manju A.","family":"Kurian","sequence":"additional","affiliation":[{"name":"Department of Neurology Great Ormond Street Hospital  London United Kingdom"},{"name":"Developmental Neurosciences, Zayed Centre for Research into Rare Disease 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