title: A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.
abstract: 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.
authors.affiliation: Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, South Korea.
authors.forename: Ji-In
authors.initials: JI
authors.lastname: Kim
authors.affiliation: Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, South Korea.
authors.forename: Jin Kyo
authors.initials: JK
authors.lastname: Choi
authors.affiliation: Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, South Korea.
authors.forename: Jin-Woo
authors.initials: JW
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, Wonju, South Korea.
authors.forename: Juwon
authors.initials: J
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, South Korea. Electronic address: mlunoilu@hanmail.net.
authors.forename: Jin Yong
authors.initials: JY
authors.lastname: Hong
mesh_terms: D000293:Adolescent; D015259:Dopamine Agents / Q000008:administration & dosage / Q000494:pharmacology; D020821:Dystonic Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005091:Exons; D005220:Fathers; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage / Q000494:pharmacology; D008297:Male; D020125:Mutation, Missense
chemical_list: D015259:Dopamine Agents; D007980:Levodopa; D006136:GTP Cyclohydrolase
keywords: Dopa-responsive dystonia; GCH1; GTP cyclohydrolase 1; Missense mutation; Segawa disease