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Scientific article
English

Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins

Published inNeurology, vol. 62, no. 4, p. 637-639
Publication date2004
Abstract

The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.

Keywords
  • Adult
  • Benserazide/therapeutic use
  • Biopterin/cerebrospinal fluid/deficiency
  • Clubfoot/genetics
  • Dihydroxyphenylalanine/therapeutic use
  • Disease Progression
  • Diseases in Twins
  • Dopamine Agents/therapeutic use
  • Dystonic Disorders/cerebrospinal fluid/drug therapy/enzymology/genetics
  • Female
  • GTP Cyclohydrolase/deficiency/genetics
  • Humans
  • Neopterin/cerebrospinal fluid/deficiency
  • Phenotype
  • Twins, Monozygotic
Citation (ISO format)
GRÖTZSCH, H et al. Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins. In: Neurology, 2004, vol. 62, n° 4, p. 637–639. doi: 10.1212/01.WNL.0000110192.27794.E8
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Article (Published version)
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ISSN of the journal0028-3878
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