Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability

This is the authors' abstract. We don't add key points for this paper.

Dopa-responsive dystonia (DRD) is an autosomal dominant neurologic disorder characterized by incomplete penetrance and high variability of its phenotypic expression.1 The usual phenotype is defined by early-onset isolated dystonia, predominant in the lower limb, with marked diurnal fluctuations and a dramatic and sustained response to low doses of l-DOPA.2 We report 2 members of the same family (mother and daughter) with a nonsense heterozygous mutation ( c.706G>T; p.Glu236* ) in the GCH1 gene and having DRD with phenotypic variability.