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A recent paper reported two unrelated children with a clinical diagnosis of cerebral palsy, who carried the same de novo c.1000G\u00a0&gt;\u00a0A (p.Asp334Asn) variant in <jats:italic>FBXO31<\/jats:italic>, encoding a widely studied tumor suppressor not previously implicated in monogenic disease. We now identified a third individual with the recurrent <jats:italic>FBXO31<\/jats:italic> de novo missense variant, featuring a spastic\u2010dystonic phenotype. Our data confirm a link between variant <jats:italic>FBXO31<\/jats:italic> and an autosomal dominant neurodevelopmental disorder characterized by prominent motor dysfunction.<\/jats:p>","DOI":"10.1002\/acn3.51335","type":"journal-article","created":{"date-parts":[[2021,3,6]],"date-time":"2021-03-06T08:54:50Z","timestamp":1615020890000},"page":"951-955","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Variant recurrence confirms the existence of a <i>FBXO31<\/i>\u2010related spastic\u2010dystonic cerebral palsy syndrome"],"prefix":"10.1002","volume":"8","author":[{"given":"Ivana","family":"Dzinovic","sequence":"first","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matej","family":"\u0160korv\u00e1nek","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. 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