Idiopathic dystonia-parkinsonism with marked diurnal flucuation of symptoms

6-Pyruvoyl-tetrahydropterin synthase def

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study

✍ Dr. T. Hanihara; K. Inoue; C. Kawanishi; N. Sugiyama; T. Miyakawa; H. Onishi; Y. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 380 KB

## Abstract We report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremitie