, Volume 5, Issue 3, pp 187–190 | Cite as

Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

  • Daniela Steinberger
  • Nenad Blau
  • Dimitri Goriuonov
  • Juliane Bitsch
  • Michael Zuker
  • Sibylla Hummel
  • Ulrich Müller
Original Article


The search for mutations in genes coding for components of the biopterin pathway other than GTPCH1 revealed a mutation in the gene coding for sepiapterin reductase ( SPR) in 1 of 95 patients with GCH1-negative dopa-responsive dystonia (DRD). The mutation detected in SPR is a G→A transition at position –13 of the untranslated region of the gene. This resulted in drastically reduced activity of sepiapterin reductase in the patient’s fibroblasts. The findings indicate that haploinsufficiency of SPR can be a rare cause of DRD.


Dopa-responsive dystonia Sepiapterin reductase Biopterin metabolism  GCH1 



This study was supported in part by the Swiss National Science Foundation grant no. 31–66953 and by a grant from the Deutsche Forschungsgemeinschaft (Mu668/10–1).


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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Daniela Steinberger
    • 1
    • 5
  • Nenad Blau
    • 2
  • Dimitri Goriuonov
    • 2
  • Juliane Bitsch
    • 1
  • Michael Zuker
    • 3
  • Sibylla Hummel
    • 4
  • Ulrich Müller
    • 1
  1. 1.Institut für HumangenetikJustus-Liebig-UniversitätGermany
  2. 2.Division of Clinical Chemistry and BiochemistryUniversity Children’s HospitalZürichSwitzerland
  3. 3.Rensselaer Polytechnic InstituteTroyUSA
  4. 4.Neurologische UniversitätsklinikFreiburgGermany
  5. 5.Bioscientia Center for Human GeneticsIngelheimGermany

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