Article
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.
Neuroscience letters - 22 Mar 2017
Zhang Wen, Zhou Zhizi, Li Xiuzhen, Huang Yonglan, Li Taolin, Lin Yunting, Shao Yongxian, Hu Hao, Liu Hongsheng, Liu Li
Abstract excerpt
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.