Clinical and molecular genetic polymorphism of dopa-responsive dystonia
Dopa-responsive dystonia (DRD) is a classic example of dystonia with early onset, notable diurnal fl - tuations of symptoms, combination with mild parkinsonism, as well as with dramatic and sustained treatment with low doses of levodopa. Clinical and genetic spectrum of DRD is extremely wide, which leads to diffi in the diagnosis and planning of the treatment. The paper presents a series of new cases of DRD diagnosed by revealing mutations in the GCH-I gene: cases of 5 patients are de- scribed, including two cases from one family and 3 sporadic observations. All identifi variants were point mutations - c.646C>T (p.Arg216Ter), с.416delG (frameshift), c.344-82C>А (intron), and c.259C>T (p.Pro87Ter). An algorithm of the diagnostics of this disorder and its practical importance for the timely prescription of pathogenic therapy are discussed.