Article
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
Parkinsonism & related disorders - 1 Dec 2017
Dobričić Valerija, Tomić Aleksandra, Branković Vesna, Kresojević Nikola, Janković Milena, Westenberger Ana, Rašić Vedrana Milić, Klein Christine, Novaković Ivana, Svetel Marina, Kostić Vladimir S
Abstract excerpt
BACKGROUND: GTP cyclohydrolase 1-deficient DOPA-responsive dystonia, caused by autosomal dominant mutation in the gene coding for GTP cyclohydrolase 1, is a rare disorder with a reported prevalence of 0.5 per million. A correct diagnosis of DRD is crucial, given that this is an exquisitely treatable neurogenetic disorder. Although genetic testing is now widely available, we hypothesize that DRD is still...
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