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This disease has both autosomal dominant and autosomal recessive inheritance. Autosomal dominant Segawa disease is caused by <jats:italic><jats:styled-content style=\"fixed-case\">GCH<\/jats:styled-content>1<\/jats:italic> mutation on chromosome 14q22.1\u2010q22.2. Here, we report the case of a male patient with genetically confirmed Segawa disease and atypical presentations including no diurnal symptom fluctuation and insufficient response to levodopa. The patient's father who had the same mutation presented parkinsonism in old age. We also review the literature to address the broad clinical heterogeneity of Segawa disease and the influence of onset age on clinical presentation.<\/jats:p>","DOI":"10.1002\/brb3.906","type":"journal-article","created":{"date-parts":[[2018,1,20]],"date-time":"2018-01-20T05:06:41Z","timestamp":1516424801000},"source":"Crossref","is-referenced-by-count":12,"title":["Atypical presentation of dopa\u2010responsive dystonia in Taiwan"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2135-6589","authenticated-orcid":false,"given":"Yi Ching","family":"Weng","sequence":"first","affiliation":[{"name":"Department of Neurology Chang Gung Memorial Hospital Chang\u2010Gung University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun Chieh","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Chang Gung Memorial Hospital Chang\u2010Gung University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yih Ru","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology Chang Gung Memorial Hospital Chang\u2010Gung University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,20]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"283","article-title":"Atypical presentations of dopa\u2010responsive dystonia","volume":"78","author":"Bandmann O.","year":"1998","journal-title":"Advances in Neurology"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.403"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","DOI":"10.5334\/tohm.134","article-title":"A novel DYT\u20105 mutation with phenotypic variability within a Colombian family","volume":"3","author":"Bernal\u2010Pacheco O.","year":"2013","journal-title":"Tremor and Other Hyperkinetic Movements"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0065215"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22646"},{"key":"e_1_2_6_7_1","first-page":"221","article-title":"Association of GCH1 and MIR4697, but not SIPA1L2 and VPS13C polymorphisms, with Parkinson's disease in Taiwan","volume":"39","author":"Chen C. 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