GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

MeSH terms

• Adult
• Carbidopa / administration & dosage
• Carbidopa / pharmacology*
• Codon, Nonsense / genetics
• Dopamine Agonists / administration & dosage
• Dopamine Agonists / pharmacology*
• Drug Combinations
• Dystonic Disorders / diagnosis*
• Dystonic Disorders / drug therapy
• Dystonic Disorders / genetics
• Exome
• Female
• GTP Cyclohydrolase / genetics*
• Heterozygote
• Humans
• Levodopa / administration & dosage
• Levodopa / pharmacology*
• Phenotype
• Sequence Analysis, DNA
• Spastic Paraplegia, Hereditary / diagnosis*
• Spastic Paraplegia, Hereditary / drug therapy
• Spastic Paraplegia, Hereditary / genetics
• Treatment Outcome