{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:35:25Z","timestamp":1791250525828,"version":"4.1.0"},"reference-count":72,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,1,29]],"date-time":"2015-01-29T00:00:00Z","timestamp":1422489600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Gossweiler Foundation","award":["n.a."],"award-info":[{"award-number":["n.a."]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as \u2018isolated dystonia\u2019, while \u2018combined dystonia\u2019 refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as <jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>3, <jats:styled-content style=\"fixed-case\">GNAL<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CIZ<\/jats:styled-content>1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia. Conversely, the phenotype associated with <jats:styled-content style=\"fixed-case\">TUBB<\/jats:styled-content>4<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (<jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">ABC<\/jats:styled-content> syndrome). Similarly, <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>1<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>3 mutations cause a wide phenotypic spectrum ranging from rapid\u2010onset dystonia\u2010parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia\u2010parkinsonism include dopamine transporter deficiency syndrome (<jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>63 mutations); dopa\u2010responsive dystonias; young\u2010onset parkinsonism (<jats:styled-content style=\"fixed-case\">PARKIN<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> PINK<\/jats:styled-content>1 and <jats:styled-content style=\"fixed-case\">DJ<\/jats:styled-content>\u20101 mutations); <jats:styled-content style=\"fixed-case\">PRKRA<\/jats:styled-content> mutations; and X\u2010linked <jats:styled-content style=\"fixed-case\">TAF<\/jats:styled-content>1 mutations, which rarely can also manifest in women. Clinical and genetic heterogeneity also characterizes myoclonus\u2010dystonia, which includes not only the classical phenotype associated with epsilon\u2010sarcoglycan mutations but rarely also presentation of <jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>3 gene mutations, <jats:styled-content style=\"fixed-case\">TITF<\/jats:styled-content>1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to <jats:styled-content style=\"fixed-case\">GCH<\/jats:styled-content>1 and <jats:styled-content style=\"fixed-case\">TH<\/jats:styled-content> mutations. Thus, new genes are being recognized for isolated dystonia, and the phenotype of known genes is broadening and now involves different combined dystonia syndromes.<\/jats:p>","DOI":"10.1111\/ene.12650","type":"journal-article","created":{"date-parts":[[2015,1,30]],"date-time":"2015-01-30T04:47:17Z","timestamp":1422593237000},"page":"610-617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":85,"title":["Isolated and combined dystonia syndromes \u2013 an update on new genes and their phenotypes"],"prefix":"10.1111","volume":"22","author":[{"given":"B.","family":"Balint","sequence":"first","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London UK"},{"name":"Department of Neurology University Hospital Heidelberg Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. 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