Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.
Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. There is marked diurnal fluctuation and sustained improvement of symptoms with low dose levodopa therapy. Heterozygous mutation of the gene GCH1 has been shown to cause DRD. We studied GCH1 in nine patients with DRD from six families of Federal University of Minas Gerais Movement Disorders Clinic. We identified three mutations; two affected siblings carried a novel T209P mutation and two siblings from another family were compound heterozygous carriers of Met211Val and Lys224Arg mutations. To our knowledge this is the first report of GCH1 mutations underlying DRD in patients from Brazil.
Camargos
Sarah Teixeira
ST
Universidade Federal de Minas Gerais, Department of Clinical and Neurological Sciences, Movement Disorders Group, Brazil.
Cardoso
Francisco
F
Momeni
Parastoo
P
Gianetti
Juliana Gurgel
JG
Lees
Andrew
A
Hardy
John
J
Singleton
Andrew
A
D001120:Arginine / Q000235:genetics; D001938:Brazil / Q000453:epidemiology; D015259:Dopamine Agents / Q000627:therapeutic use*; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics*; D005192:Family Health; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008239:Lysine / Q000235:genetics; D008715:Methionine / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D014633:Valine / Q000235:genetics
D015259:Dopamine Agents; D007980:Levodopa; D001120:Arginine; D008715:Methionine; D006136:GTP Cyclohydrolase; D014633:Valine; D008239:Lysine