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

• Published in: Journal of neurology Vol. 261; no. 3; pp. 622 - 624
• Main Authors: Fan, Zheng, Greenwood, Robert, Felix, Ana C. G., Shiloh-Malawsky, Yael, Tennison, Michael, Roche, Myra, Crooks, Kristy, Weck, Karen, Wilhelmsen, Kirk, Berg, Jonathan, Evans, James
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2014; Springer Nature B.V
• Subjects: Adult; Carbidopa - administration & dosage; Carbidopa - pharmacology; Codon, Nonsense - genetics; Dopamine Agonists - administration & dosage; Dopamine Agonists - pharmacology; Drug Combinations; Dystonia; Dystonic Disorders - diagnosis; Dystonic Disorders - drug therapy; Dystonic Disorders - genetics; Etiology; Exome; Female; Genes; Genetic testing; GTP Cyclohydrolase - genetics; Heterozygote; Humans; Letter to the Editors; Levodopa - administration & dosage; Levodopa - pharmacology; Medicine; Medicine & Public Health; Mutation; Neurology; Neuroradiology; Neurosciences; Paralysis; Patients; Phenotype; Sequence Analysis, DNA; Spastic Paraplegia, Hereditary - diagnosis; Spastic Paraplegia, Hereditary - drug therapy; Spastic Paraplegia, Hereditary - genetics; Spasticity; Treatment Outcome; Dysarthric Speech; Levodopa; Dystonia; Cerebral Palsy; Hereditary Spastic Paraplegia
• ISSN: 0340-5354; 1432-1459
• DOI: 10.1007/s00415-014-7265-3