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A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease
  1. M von Mering1,
  2. H Gabriel2,
  3. T Opladen3,
  4. G F Hoffmann3,
  5. A Storch1
  1. 1
    Department of Neurology, Technical University Dresden, Dresden, Germany
  2. 2
    Center of Medical Genetics, Osnabrück, Germany
  3. 3
    Department of Pediatrics, University of Heidelberg, Heidelberg, Germany
  1. Prof Alexander Storch, Department of Neurology, Fetscherstrasse 74, 01307 Dresden, Germany; Alexander.Storch{at}neuro.med.tu-dresden.de

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DYT5 dystonia (Segawa disease) is an autosomal-dominant inherited progressive dystonia that is evoked by mutations/deletions of the GTP cyclohydrolase 1 (GCH1) gene,13 which codes for the rate-limiting enzyme of tetrahydrobiopterin (BH4) synthesis. Segawa disease is a rare disorder with an estimated prevalence of 0.5 per million. We report a clinical course caused by a novel mutation of the GCH1 gene in a 25-year-old Caucasian female presenting in our outpatient clinic. The patient was born to healthy parents with no history or signs of neurological diseases. She described the development of a gait disturbance beginning at the age of …

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