{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:08:40Z","timestamp":1772168920712,"version":"3.50.1"},"reference-count":16,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T00:00:00Z","timestamp":1620345600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Kawano Masanori Memorial Foundation for Promotion of Pediatrics"},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology (MEXT), Japan","doi-asserted-by":"crossref","award":["20K07896"],"award-info":[{"award-number":["20K07896"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns3:p>Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a phenotypically and genetically heterogeneous group of neurological disorders that typically presents as early-onset lower limb dystonia with diurnal fluctuation, and exhibits a marked, persistent response to levodopa. Heterozygous loss-of-function mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) are the most common cause of DRD. In addition to the classic form of the disease, there have been a number of studies addressing atypical clinical features of GCH1 related DRD with variable age of onset. This report describes a 37-year-old Japanese male patient with a 10-year history of focal upper limb dystonia that initially emerged as task-specific, guitarist\u2019s cramp. The dystonic symptoms responded very well to levodopa treatment, and genetic analysis identified a novel heterozygous mutation in the C-terminal catalytic domain of GCH1. Insufficient recognition of this treatable condition often leads to misdiagnosis, which causes delays in the patient receiving adequate dopamine replenishing therapy. A diagnostic trial with levodopa should be considered in all patients with relatively young-onset dystonia, whether they have classic features of DRD or not.<\/ns3:p>","DOI":"10.12688\/f1000research.51433.1","type":"journal-article","created":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T11:55:49Z","timestamp":1620388549000},"page":"361","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Guitarist\u2019s cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation"],"prefix":"10.12688","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5040-8985","authenticated-orcid":false,"given":"Takafumi","family":"Hasegawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuhiko","family":"Hosaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8698-6218","authenticated-orcid":false,"given":"Ryuhei","family":"Harada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Kawahata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Hoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoto","family":"Sugeno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akio","family":"Kikuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Aoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2021,5,7]]},"reference":[{"key":"ref-1","first-page":"215-233","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation.","volume":"14","author":"M Segawa","year":"1976","journal-title":"Adv Neurol."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"414-424","DOI":"10.1038\/nrneurol.2015.86","article-title":"Dopa-responsive dystonia--clinical and genetic heterogeneity.","volume":"11","author":"S Wijemanne","year":"2015","journal-title":"Nat Rev Neurol."},{"key":"ref-3","article-title":"Dopa-responsive dystonia patient response before and after levodopa treatment","author":"T Hasegawa","year":"2021"},{"key":"ref-4","doi-asserted-by":"publisher","first-page":"172-185","DOI":"10.1006\/mgme.2001.3213","article-title":"Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.","volume":"74","author":"N Blau","year":"2001","journal-title":"Mol Genet Metab."},{"key":"ref-5","doi-asserted-by":"publisher","first-page":"51534-51540","DOI":"10.1074\/jbc.M409440200","article-title":"Structural basis of biopterin-induced inhibition of GTP cyclohydrolase I by GFRP, its feedback regulatory protein.","volume":"279","author":"N Maita","year":"2004","journal-title":"J Biol Chem."},{"key":"ref-6","doi-asserted-by":"publisher","first-page":"5-17","DOI":"10.1111\/ene.13762","article-title":"Dystonia: diagnosis and management.","volume":"26","author":"A Albanese","year":"2019","journal-title":"Eur J Neurol."},{"key":"ref-7","doi-asserted-by":"publisher","first-page":"236-242","DOI":"10.1038\/ng1194-236","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.","volume":"8","author":"H Ichinose","year":"1994","journal-title":"Nat Genet."},{"key":"ref-8","doi-asserted-by":"publisher","first-page":"590-593","DOI":"10.1002\/mds.10712","article-title":"Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.","volume":"19","author":"A Kikuchi","year":"2004","journal-title":"Mov Disord."},{"key":"ref-9","doi-asserted-by":"publisher","first-page":"e00906","DOI":"10.1002\/brb3.906","article-title":"Atypical presentation of dopa-responsive dystonia in Taiwan.","volume":"8","author":"Y Weng","year":"2018","journal-title":"Brain Behav."},{"key":"ref-10","doi-asserted-by":"publisher","first-page":"839-845","DOI":"10.1136\/jnnp.2008.155861","article-title":"Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.","volume":"80","author":"I Trender-Gerhard","year":"2009","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"ref-11","doi-asserted-by":"publisher","first-page":"1112-1121","DOI":"10.1093\/brain\/123.6.1112","article-title":"Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?","volume":"123","author":"J Tassin","year":"2000","journal-title":"Brain."},{"key":"ref-12","doi-asserted-by":"publisher","first-page":"649-656","DOI":"10.1002\/ana.410440411","article-title":"Dopa-responsive dystonia: a clinical and molecular genetic study.","volume":"44","author":"O Bandmann","year":"1998","journal-title":"Ann Neurol."},{"key":"ref-13","doi-asserted-by":"publisher","first-page":"921-927","DOI":"10.1002\/mds.25791","article-title":"Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?","volume":"29","author":"K Lohmann","year":"2014","journal-title":"Mov Disord."},{"key":"ref-14","doi-asserted-by":"publisher","first-page":"178-180","DOI":"10.1016\/j.ejpn.2008.03.007","article-title":"Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.","volume":"13","author":"M Gerrits","year":"2009","journal-title":"Eur J Paediatr Neurol."},{"key":"ref-15","first-page":"325-334","article-title":"Inherited myoclonus-dystonia syndrome.","volume":"78","author":"T Gasser","year":"1998","journal-title":"Adv Neurol."},{"key":"ref-16","doi-asserted-by":"publisher","first-page":"58-62","DOI":"10.1016\/j.jpsychores.2017.04.004","article-title":"Is there a specific psychiatric background or personality profile in functional dystonia?","volume":"97","author":"A Tomi\u0107","year":"2017","journal-title":"J Psychosom Res."}],"container-title":["F1000Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/f1000research.com\/articles\/10-361\/v1\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/10-361\/v1\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/10-361\/v1\/iparadigms","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T09:10:26Z","timestamp":1650532226000},"score":1,"resource":{"primary":{"URL":"https:\/\/f1000research.com\/articles\/10-361\/v1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,7]]},"references-count":16,"URL":"https:\/\/doi.org\/10.12688\/f1000research.51433.1","relation":{"has-review":[{"id-type":"doi","id":"10.5256\/f1000research.54602.r84972","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.54602.r90521","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.54602.r90523","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.54602.r84972","asserted-by":"object"},{"id-type":"doi","id":"10.5256\/f1000research.54602.r90521","asserted-by":"object"},{"id-type":"doi","id":"10.5256\/f1000research.54602.r90523","asserted-by":"object"}]},"ISSN":["2046-1402"],"issn-type":[{"value":"2046-1402","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,7]]},"assertion":[{"value":"Indexed","URL":"https:\/\/f1000research.com\/articles\/10-361\/v1#article-reports","order":0,"name":"referee-status","label":"Referee status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.54602.r84972, Hiroshi Ichinose, School of Life Science and Technology, Tokyo Institute of Technology, Yokohama, Japan, 08 Jun 2021, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/10-361\/v1#referee-response-84972","order":0,"name":"referee-response-84972","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.54602.r90523, Taku Hatano, Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan, 09 Aug 2021, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/10-361\/v1#referee-response-90523","order":1,"name":"referee-response-90523","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.54602.r90521, Juei-Jueng Lin, Department of Neurology, Chushang Show-Chwan Hospital, Nantou, Taiwan, 17 Aug 2021, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/10-361\/v1#referee-response-90521","order":2,"name":"referee-response-90521","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"This work was supported in part by a Grant-in-Aid for Scientific Research (C) from the Ministry of Education, Culture, Sports, Science and Technology (assigned to Takafumi Hasegawa; grant number 20K07896). The research was also supported by Kawano Masanori Memorial Foundation for Promotion of Pediatrics (assigned to Ichiro Kawahata).","order":3,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}