{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:23:18Z","timestamp":1784204598429,"version":"3.55.0"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2199,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have studied the GTP\u2010cyclohydrolase 1 (GCH\u20101) gene in 30 patients with the diagnosis of clinically definite (n = 20) or possible (n = 10) dopa\u2010responsive dystonia (DRD) as well as in a child with atypical phenylketonuria due to complete GCH\u20101 deficiency. A large number of new heterozygote mutations (seven point mutations, two splice site mutations and one deletion) as well as a new homozygote mutations in the child with atypical phenylketonuria were detecte. In addition, two previously described mutations wer found in two other cases. We further extended our investigation of GCH\u20101 to the 5\u2032 and 3\u2032 regulatory regions and report the first detection of point mutations in the 5\u2032 untranslated region. Demethylation of CpG islands does not appear to be an important causative factor for the GCH\u20101 mutations in DRD. In addition, we have extended the clinical phenotype of genetically proven DRD to focal dystonia, dystonia with relapsing and remitting course, and DRD with onset in the first week of life. None of our DRD patients without a mutation in GCH\u20101 had the 3\u2010bp deletion recently detected in DYT1, the causative gene for idiopathic torsion dystonia with linkage to 9q34.<\/jats:p>","DOI":"10.1002\/ana.410440411","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:37:16Z","timestamp":1104597436000},"page":"649-656","source":"Crossref","is-referenced-by-count":104,"title":["Dopa\u2010responsive dystonia: A clinical and molecular genetic study"],"prefix":"10.1002","volume":"44","author":[{"given":"O.","family":"Bandmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. M.","family":"Valente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Holmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. A. 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