title: [Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia].
abstract: OBJECTIVE
  To explore genetic mutations and clinical features of a pedigree affected with dopa-responsive dystonia.
  
  
  METHODS
  PCR and Sanger sequencing were applied to detect mutations of the GCH1 gene among 7 members from the pedigree.
  
  
  RESULTS
  The family was detected to have a known heterozygous mutation of the GCH1 gene (c.550C>T). For the 7 members from the pedigree, the age of onset has ranged from 13 to 60 years. The mother of the proband has carried the same mutation but was still healthy at 80. The symptoms of the other three patients were in slow progression, with diurnal fluctuation which can be improved with sleeping, dystonias of lower limbs, and tremor of both hands. Treatment with small dose of levodopa has resulted in significant improvement of clinical symptoms. By database analysis, the c.550C>T mutation was predicted as probably pathological.
  
  
  CONCLUSIONS
  The c.550C>T mutation probably underlies the disease in this pedigree. The clinical phenotypes of family members may be variable for their ages of onset. Some may even be symptom free.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310009, China. yanyaping1226@126.com.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Yan
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Chen
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D006136:GTP Cyclohydrolase