{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:06:15Z","timestamp":1792613175858,"version":"4.5.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,12,27]],"date-time":"2014-12-27T00:00:00Z","timestamp":1419638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Importance<\/jats:title><jats:p>Apart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. Here we identify adenylate cyclase 5 (<jats:italic>ADCY5<\/jats:italic>) as a likely new causal gene for early\u2010onset chorea and dystonia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Observations<\/jats:title><jats:p>Whole exome sequencing in a three\u2010generation family affected with autosomal dominant chorea associated with dystonia identified a single <jats:italic>de novo<\/jats:italic> mutation\u2014c.2088+1G&gt;A in a 5' donor splice\u2010site of <jats:italic>ADCY5<\/jats:italic>\u2014segregating with the disease. This mutation seeming leads to RNA instability and therefore <jats:italic>ADCY5<\/jats:italic> haploinsufficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions and Relevance<\/jats:title><jats:p>Our finding confirms the genetic\/clinical heterogeneity of the disorder; corroborated by previous identification of <jats:italic>ADCY5<\/jats:italic> mutations in one family with dyskinesia\u2010facial myokymia and in two unrelated sporadic cases of paxoysmal choreic\/dystonia\u2010facial myokymia; <jats:italic>ADCY5<\/jats:italic>'s high expression in the striatum and movement disorders in <jats:italic>ADCY5\u2010<\/jats:italic>deficient mice. Hence <jats:italic>ADCY5<\/jats:italic> genetic analyses may be relevant in the diagnostic workup of unexplained early\u2010onset hyperkinetic movement disorders. \u00a9 2014 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26115","type":"journal-article","created":{"date-parts":[[2014,12,27]],"date-time":"2014-12-27T11:41:33Z","timestamp":1419680493000},"page":"423-427","source":"Crossref","is-referenced-by-count":72,"title":["A <i>de novo<\/i><i>ADCY5<\/i> mutation causes early\u2010onset autosomal dominant chorea and dystonia"],"prefix":"10.1002","volume":"30","author":[{"given":"Raphael","family":"Carapito","sequence":"first","affiliation":[{"name":"Plateforme GENOMAX Laboratoire d'ImmunoRhumatologie Mol\u00e9culaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'H\u00e9matologie, Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg  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