{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:23:46Z","timestamp":1761719026549,"version":"build-2065373602"},"reference-count":7,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,4,23]],"date-time":"2021-04-23T00:00:00Z","timestamp":1619136000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in the anoctamin 3 (<jats:italic>ANO3<\/jats:italic>) gene cause autosomal dominant craniocervical dystonia (DYT24), presenting from childhood to mid\u2010life. However, in the past years, the clinical spectrum of this disorder has widened. We present a family with heterogeneous presentation, exemplifying phenotypic diversity in DYT24.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>The index case presented with myoclonic dystonia at age 10. His family history was remarkable for cervical dystonia with myoclonus in his grandfather, cervical and upper limb dystonia along with dopa\u2010responsive parkinsonism in his father and lower\u2010limb dystonia in his teenage sister. Magnetic resonance imaging and blood work\u2010ups of all the affected family members were normal. The genetic panel for inherited forms of dystonia disclosed a point mutation c.1787C\u2009&gt;\u2009A (p.Ser596Tyr) segregated in all affected family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>ANO3<\/jats:italic> mutations usually present with craniocervical dystonia and rarely generalized or leg dystonia. This family exemplifies the heterogeneous presentation of this disorder as well as a wide phenotypic variability within the same family.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13209","type":"journal-article","created":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T02:12:08Z","timestamp":1617243128000},"page":"758-762","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in <scp><i>ANO3<\/i><\/scp>\u2010Related Dystonia"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5385-0901","authenticated-orcid":false,"given":"Vanessa","family":"Carvalho","sequence":"first","affiliation":[{"name":"Department of Neurology Hospital Pedro Hispano\/Unidade Local de Sa\u00fade de Matosinhos  Matosinhos Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana","family":"Martins","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Centro Materno\u2010Infantil do Norte Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filipe","family":"Correia","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Pedro Hispano\/Unidade Local de Sa\u00fade de Matosinhos  Matosinhos Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital das For\u00e7as Armadas  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5791-7149","authenticated-orcid":false,"given":"Jo\u00e3o","family":"Massano","sequence":"additional","affiliation":[{"name":"Department of Neurology Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o  Porto Portugal"},{"name":"Department of Clinical Neurosciences and Mental Health Faculty of Medicine University of Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Temudo","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Centro Materno\u2010Infantil do Norte Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"},{"name":"Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar University of Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25802"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2018.02.012"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2019.06.014"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.01.020"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.024"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12650"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-018-0023-6"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13209","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.13209","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:13:55Z","timestamp":1760951635000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.13209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,23]]},"references-count":7,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1002\/mdc3.13209"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.13209","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"type":"print","value":"2330-1619"},{"type":"electronic","value":"2330-1619"}],"subject":[],"published":{"date-parts":[[2021,4,23]]},"assertion":[{"value":"2021-01-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}