Article
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
PloS one - 1 Jan 2013
Cai Chunyou, Shi Wentao, Zeng Zheng, Zhang Meiyun, Ling Chao, Chen Lei, Cai Chunquan, Zhang Benshu, Li Wei-Dong
Abstract excerpt
Dopa-responsive dystonia (DRD) is a rare inherited dystonia that responds very well to levodopa treatment. Genetic mutations of GTP cyclohydrolase I (GCH1) or tyrosine hydroxylase (TH) are disease-causing mutations in DRD. To evaluate the genotype-phenotype correlations and diagnostic values of GCH1 and TH mutation screening in DRD patients, we carried out a combined study of familial and sporadic cases in...
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