P199 – 1785 Six cases of Dopa-responsive dystonia with GCH1 mutations
✍ Scribed by Ryu, HW; Kim, HM; Lim, BC; Hwang, H; Chae, JH; Choi, J-E; Hwang, YS; Kim, KJ
- Book ID
- 121890741
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 68 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1090-3798
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## Abstract Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. There is marked diurnal fluctuation and sustained improvement of symptoms with low dose levodopa therapy. H
## Abstract Dopa‐responsive dystonia (DRD) is typically caused by heterozygous mutations in GTP cyclohydrolase 1 gene (__GCH1__). Our aim was to investigate the clinical and genetic features of Chinese DRD patients. We analyzed a cohort of Chinese DRD patients' clinical data. Mutation of the __GCH1