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- W1997741398 abstract "The GCH1 gene encodes GTP cyclohydrolase I (GCH1), which catalyzes the first step (GTP to 7, 8-dihydroneopterin-triphosphate) in the biosynthesis of tetrahydrobiopterin (BH4). This enzyme is rate-limiting and deficiency causes Segawa disease, characterized by hereditary progressive dystonia with marked diurnal fluctuation (HPD/DRD) and autosomal recessive GCH-deficient hyperphenylalanemia. Conventionally, the first symptoms of DRD develop before 10 years of age, and few cases of adult onset have been described [ 1 Ichinose H. Ohye T. Takahashi E. Seki N. Hori T. Segawa M. et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 1994; 8: 236-242 Crossref PubMed Scopus (697) Google Scholar , 2 Segawa M. Nomura Y. Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa Disease). Ann Neurol. 2003; 54: S32-S45 Crossref PubMed Scopus (215) Google Scholar ]. To date, over one hundred kinds of the GCH1 mutation have been reported to lower enzymatic activity, which has also been observed in mononuclear blood cells of juvenile Parkinsonism [ [3] Ichinose H. Ohye T. Yokochi M. Fujita K. Nagatsu T. GTP cyclohydrolase 1 activity in mononuclear blood cells in juvenile Parkinsonism. Neurosci Lett. 1995; 190: 140-142 Crossref PubMed Scopus (16) Google Scholar ]. However, no reports have described only Parkinsonism occurring with a GCH1 gene mutation." @default.
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- W1997741398 date "2009-02-01" @default.
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- W1997741398 title "A new mutation in the GCH1 gene presents as early-onset Parkinsonism" @default.
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- W1997741398 doi "https://doi.org/10.1016/j.parkreldis.2007.12.010" @default.
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