Skip to main content
Log in

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia

  • LETTER TO THE EDITORS
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Segawa M, Ohmi H, Itoh S et al (1971) Childhood basal ganglia disease with remarkable response to L-Dopa, hereditary basal ganglia disease with marked diurnal fluctuations. Shinryo (Tokyo) 24:667–72

    Google Scholar 

  2. Ichinose H, Ohye T, Matsuda Y et al (1994) Hereditary progressive dystonia with marked diurnal fluctuations caused by mutation in the GTP-Cyclohydrolase 1 gene. Nat Genet 8:236–42

    Article  CAS  PubMed  Google Scholar 

  3. Nygaard TG, Wilhelmesen KC, Risch NJ et al. (1993) Linkage mapping of dopa responsive dystonia (DRD) to chromosome 14q. Nat Genet 5:386–91

    Article  CAS  PubMed  Google Scholar 

  4. Hyland K, Fryburg JS, Wilson WG et al (1997) Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology 48:1290–297

    CAS  PubMed  Google Scholar 

  5. Bracher A, Fischer M, Eisenreich W et al (1999) Histidine 179 mutants of GTP cyclohydrolase I catalyze the formation of 2-amino-5-formylamino-6-ribofuranosylamino-4(3H)-pyrimidinone triphosphate. J Biol Chem 274:16727–6735

    Article  CAS  PubMed  Google Scholar 

  6. Nishiyama N, Yukisita S, Hagiwara H et al (2000) Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia. Brain Dev 22:S102–S106

    Article  PubMed  Google Scholar 

  7. Auerbach G, Herrmann A, Bracher A et al (2000) Zinc plays a key role in human and bacterial GTP cyclohydrolase I. Proc Natl Acad Sci USA 97:13567–3572

    Article  CAS  PubMed  Google Scholar 

  8. Allan SG, Leonard RC, Cornbleet MA et al (1984) Dystonic reactions due to metoclopramide. Lancet 1 (8371):283

    Article  CAS  PubMed  Google Scholar 

  9. Macucci M, Dotti MT, Federico A. (1992) Familial acute dystonic-dyskinetic syndrome with dominant inheritance after use of antidopaminergic drugs. Mov Dis 7:385–86

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Giuseppe De Michele.

Rights and permissions

Reprints and permissions

About this article

Cite this article

De Rosa, A., Carducci, C., Antonozzi, I. et al. A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia. J Neurol 254, 1133–1134 (2007). https://doi.org/10.1007/s00415-006-0475-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-006-0475-6

Keywords

Navigation