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

Journal of Neurology

Volumn 261, Issue 3, 2014, Pages 622-624

  Fan, Zheng ^a   Greenwood, Robert ^a   Felix, Ana C G ^a   Shiloh Malawsky, Yael ^a   Tennison, Michael ^a   Roche, Myra ^a   Crooks, Kristy ^a   Weck, Karen ^a   Wilhelmsen, Kirk ^a   Berg, Jonathan ^a   Evans, James ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; CARBIDOPA; CARBIDOPA, LEVODOPA DRUG COMBINATION; DOPAMINE RECEPTOR STIMULATING AGENT; DRUG COMBINATION; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; STOP CODON;

ADULT; ANXIETY; BICYCLE; CASE REPORT; CEREBRAL PALSY; CIRCADIAN RHYTHM; CLONUS; CRUTCH; DYSARTHRIA; DYSPNEA; DYSTONIA; EXOME; FEMALE; FOOT SURGERY; FUNCTIONAL DISEASE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HALLUX; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INCIDENTAL FINDING; INFORMED CONSENT; LETTER; MEDICAL ASSESSMENT; MOVEMENT (PHYSIOLOGY); MUSCLE CRAMP; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RIGIDITY; SPASTIC GAIT; TENDON REFLEX; TITRIMETRY; WALKING; WHOLE EXOME SEQUENCING; DNA SEQUENCE; DRUG COMBINATION; DYSTONIC DISORDERS; GENETICS; HETEROZYGOTE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; STOP CODON; TREATMENT OUTCOME;

ADULT; CARBIDOPA; CODON, NONSENSE; DOPAMINE AGONISTS; DRUG COMBINATIONS; DYSTONIC DISORDERS; EXOME; FEMALE; GTP CYCLOHYDROLASE; HETEROZYGOTE; HUMANS; LEVODOPA; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY; TREATMENT OUTCOME;

EID: 84896489014     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7265-3     Document Type: Letter

References (13)

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