Idiopathic, myoclonic and Dopa-responsive dystonia.
The clinical manifestations and the present status of our knowledge of the genetics of the idiopathic, myoclonic and Dopa-responsive dystonias are reviewed. The relevance of recent genetic findings to the classification of the idiopathic dystonias and to the molecular pathogenesis of Dopa-responsive dystonia are emphasized.
Gasser
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Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-Universität, München, Germany.
D004295:Dihydroxyphenylalanine / Q000627:therapeutic use*; D004421:Dystonia / Q000145:classification* / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D006801:Humans; D009207:Myoclonus / Q000235:genetics*; D010641:Phenotype
D004295:Dihydroxyphenylalanine