Kim JI, Choi JK, Lee JW, Kim J, Ki CS, Hong JY. - August 8, 2014
Segawa disease is a rare disorder presenting gait disturbance and dystonia with marked fluctuation, and caused by GTP cyclohydrolase 1 (GCH1) deficiency. Our 15-year-old patient was admitted for fluctuating gait disturbance lasted for 4years. Administration of levodopa resulted in a dramatic improvement, and positron emission tomography using 18F-FP-CIT showed normal striatal dopamine transporter activity.