title: GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.
authors: University of North Carolina at Chapel Hill, Chapel Hill, NC, USA, zhengfan@med.unc.edu.
authors: Zheng
authors: Z
authors: Fan
authors: Robert
authors: R
authors: Greenwood
authors: Ana C G
authors: AC
authors: Felix
authors: Yael
authors: Y
authors: Shiloh-Malawsky
authors: Michael
authors: M
authors: Tennison
authors: Myra
authors: M
authors: Roche
authors: Kristy
authors: K
authors: Crooks
authors: Karen
authors: K
authors: Weck
authors: Kirk
authors: K
authors: Wilhelmsen
authors: Jonathan
authors: J
authors: Berg
authors: James
authors: J
authors: Evans
mesh_terms: D000328:Adult; D002230:Carbidopa / Q000008:administration & dosage / Q000494:pharmacology*; D018389:Codon, Nonsense / Q000235:genetics; D018491:Dopamine Agonists / Q000008:administration & dosage / Q000494:pharmacology*; D004338:Drug Combinations; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D059472:Exome; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage / Q000494:pharmacology*; D010641:Phenotype; D017422:Sequence Analysis, DNA; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D018389:Codon, Nonsense; D018491:Dopamine Agonists; D004338:Drug Combinations; C009265:carbidopa, levodopa drug combination; D007980:Levodopa; D006136:GTP Cyclohydrolase; D002230:Carbidopa