Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

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Trender-Gerhard , Iris; Sweeney , Mary G; Schwingenschuh , Petra; Mir , Pablo; Edwards , Mark J; Gerhard , Alexander; Polke , James M; Hanna , Mike G; Davis , Mary B; Wood , Nick W; Bhatia , Kailash P;
  • Publisher: BMJ Publishing Group
  • Related identifiers: doi: 10.1136/jnnp.2008.155861
  • Subject: treatment | Dopa-responsive dystonia | GTPCH1 | DYSTONIA | DRD | pregnancy | MOVEMENT DISORDERS
    mesheuropmc: nervous system diseases

International audience; An autosomal dominantly inherited defect in the GCH1 gene that encodes guanosine triphosphate cyclohydrolase 1 (GTPCH1) is the most common cause of dopa-responsive dystonia (DRD). A classic phenotype of young-onset lower limb dystonia, diurnal fl... View more
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