Journal
PEDIATRIC NEUROLOGY
Volume 38, Issue 5, Pages 367-369Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2008.01.012
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Dopa-responsive dystonia in children, including guanosine triphosphate cyclohydrolase I deficiency, is an important subcategory of treatable dystonia characterized by a dramatic, sustained response to levodopa. Early diagnosis is difficult, however, because of the heterogeneity of the clinical phenotype. We report on two Korean children affected with dopa-responsive dystonia caused by a novel missense mutation of the guanosine triphosphate cyclohydrolase I gene. One child exhibits a novel sporadic mutation, and the other child demonstrates autosomal-dominant inheritance. (C) 2008 by Elsevier Inc. All rights reserved.
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