{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:40:41Z","timestamp":1761007241923,"version":"build-2065373602"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T00:00:00Z","timestamp":1284422400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Polish Ministry of Science and Higher Education","award":["N R13 0038 04"],"award-info":[{"award-number":["N R13 0038 04"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a recent <jats:italic>GCH1<\/jats:italic> mutation screen, an 18\u2010bp deletion was identified within the proximal promoter in two patients with early\u2010onset Parkinson's disease. The mutation removes cAMP response element critical for adequate GTP cyclohydrolase I activity in selected cell types, including dopaminergic neurons, but its biological significance was unclear as it was also detected in one control individual. We present an 11\u2010year\u2010old boy with infantile\u2010onset severe dystonic encephalopathy without hyperphenylalaninemia whom we found compound heterozygous for the same promoter <jats:italic>GCH1<\/jats:italic> deletion and another common missense mutation associated with classical dopa\u2010responsive dystonia. Extensive diagnostic work up excluded other causes of dystonia, and comprehensive mutation scan did not reveal any additional <jats:italic>GCH1<\/jats:italic> sequence variations, supporting the association between the promoter deletion and disease phenotype. \u00a9 2010 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23364","type":"journal-article","created":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T09:49:47Z","timestamp":1284457787000},"page":"337-340","source":"Crossref","is-referenced-by-count":9,"title":["Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18\u2010bp deletion within the proximal <i>GCH1<\/i> promoter"],"prefix":"10.1002","volume":"26","author":[{"given":"Marek","family":"Bodzioch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Lapicka\u2010Bodzioch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Rudzinska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek J.","family":"Pietrzyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miroslaw","family":"Bik\u2010Multanowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrzej","family":"Szczudlik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,9,14]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj3470001"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20366"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2005.03402.x"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/en.2008-1464"},{"key":"e_1_2_7_6_2","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1385\/1-59259-902-8:209","volume-title":"Current clinical neurology: movement disorder emergencies: diagnosis and treatment","author":"Furukawa Y","year":"2005"},{"key":"e_1_2_7_7_2","first-page":"1725","volume-title":"The metabolic and molecular bases of inherited disease","author":"Blau N","year":"2001"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.01.003"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000152839.50258.A2"},{"key":"e_1_2_7_10_2","unstructured":"BlauN ThonyB. 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