{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:01Z","timestamp":1777803601821,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2014,6,17]],"date-time":"2014-06-17T00:00:00Z","timestamp":1402963200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:p>Dopa-responsive dystonia is a rare hereditary movement disorder caused by mutations in the guanosine triphosphate cyclohydrolase 1 ( GCH1) gene. This disease typically manifests in dystonia, with marked diurnal fluctuation and a dramatic response to levodopa. However, growth retardation in dopa-responsive dystonia has rarely been reported, and the etiology of short stature is not clarified. Here, we report a 14-year-old patient with extremities dystonia and short stature. Treatment with levodopa relieved his symptoms and resulted in a height increase. We also investigated the mutation in GCH1 and the etiology of short stature in this case. Sequence analysis of GCH1 revealed a novel mutation (c.695G&gt;T). Laboratory examinations and imaging confirmed the diagnosis of growth hormone deficiency. We conclude that our case reveals a rare feature for dopa-responsive dystonia and suggests a possible pathogenic link between growth hormone deficiency and dopa-responsive dystonia. We recommend levodopa as the first choice for treating dopa-responsive dystonia in children with growth hormone deficiency.<\/jats:p>","DOI":"10.1177\/0883073814538498","type":"journal-article","created":{"date-parts":[[2014,6,18]],"date-time":"2014-06-18T03:11:52Z","timestamp":1403061112000},"page":"796-799","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Growth Hormone Deficiency in a Dopa-Responsive Dystonia Patient With a Novel Mutation of Guanosine Triphosphate Cyclohydrolase 1 Gene"],"prefix":"10.1177","volume":"30","author":[{"given":"Yu","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan-Ni","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wan-Jin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China"},{"name":"Center of Neuroscience, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Ting","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China"},{"name":"Center of Neuroscience, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,6,17]]},"reference":[{"key":"bibr1-0883073814538498","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-236"},{"key":"bibr2-0883073814538498","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)93832-9"},{"key":"bibr3-0883073814538498","first-page":"377","volume":"50","author":"Nygaard TG","year":"1988","journal-title":"Adv Neurol"},{"key":"bibr4-0883073814538498","first-page":"1","volume":"32","author":"Segawa M.","year":"2009","journal-title":"Chang Gung Med 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