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. Genetic study revealed a novel missense mutation in the exon 5 of GCH1 gene at c.623C>A in the proband and his father, and in silico analysis predicted that the protein function was probably damaged. Mutation analysis and searching with genetic databases might help diagnosing Segawa disease and predicting protein function.
Keywords: Dopa-responsive dystonia; GCH1; GTP cyclohydrolase 1; Missense mutation; Segawa disease.
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