Transcranial sonography in dopa-responsive dystonia

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• 作者：M. Svetel ; A. Tomić ; M. Mijajlović ; V. Dobričić ; I. Novaković ; T. Pekmezović ; L. Brajković and V. S. Kostić
• 刊名：European Journal of Neurology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：24
• 期：1
• 页码：161-166
• 全文大小：151K
• ISSN：1468-1331

文摘

Mutations in the GCH1 gene, encoding GTP cyclohydrolase 1, the enzyme critically important for dopamine production in nigrostriatal neurons, are the most common cause of dopa-responsive dystonia (DRD), characterized predominantly by limb dystonia, although parkinsonian features may also be present. It has been suggested that DRD is a neurochemical rather than neurodegenerative disorder.