Article
A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.
Clinical neurology and neurosurgery - 1 Feb 2018
Yang Chen-Chih, Wang Wei-Chung, Yeh Tu-Hsueh, Chen Tzu-Hsuan, Liu Yen-Liang, Lu Ming-Kuei, Lu Chin-Song, Tsai Chon-Haw
Abstract excerpt
BACKGROUND: Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by early onset dystonia and a dramatic response to relatively low doses of levodopa. The autosomal dominant DRD is caused by mutations in the gene coding GTP cyclohydrolase 1 (GCH1), the enzyme that catalyzes the first step in the biosynthesis of tetrahydrobiopterin. We herein report a novel gene mutation causally links to DRD....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.