Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5)

Chang Gung Medical Journal

Volumn 32, Issue 1, 2009, Pages 1-11

  Segawa, Masaya ^a  

^a Segawa Neurological Clinic for Children   (Japan)

Author keywords

Action dystonia; Dopa responsive dystonia; GTP cyclohydrolase I; Postural dystonia; Segawa disease

Indexed keywords

6 FLUORODOPA F 18; AMANTADINE; BIOPTERIN; CHOLINERGIC RECEPTOR BLOCKING AGENT; DECARBOXYLASE INHIBITOR; DOPAMINE; DOPAMINE RECEPTOR; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; LEVODOPA; N SPIPERON C 11; NEOPTERIN; PHENYLALANINE; RACLOPRIDE C 11; RADIOPHARMACEUTICAL AGENT; TETRAHYDROBIOPTERIN; TYROSINE 3 MONOOXYGENASE; UNCLASSIFIED DRUG;

AUTOPSY; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BASAL GANGLION; BRADYKINESIA; CEREBROSPINAL FLUID EXAMINATION; CHOREA; CHROMOSOME 14Q; CLINICAL FEATURE; DECARBOXYLATION; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DISEASE ACTIVITY; DISEASE CLASSIFICATION; DISEASE COURSE; DOPAMINERGIC NERVE CELL; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG DOSE TITRATION; DRUG EFFICACY; DRUG RESPONSE; DYSTONIA; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HETEROZYGOTE; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; LABORATORY DIAGNOSIS; LOCOMOTION; MAGNETIC STIMULATION; MENTAL DEVELOPMENT; MOLECULAR BIOLOGY; MOTOR DEVELOPMENT; MUSCLE RIGIDITY; MYOTATIC REFLEX; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEUROPHYSIOLOGY; NIGRONEOSTRIATAL SYSTEM; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PATHOPHYSIOLOGY; PHARMACEUTICAL CARE; PHENOTYPIC VARIATION; POLYSOMNOGRAPHY; POSITRON EMISSION TOMOGRAPHY; PROGNOSIS; RECEPTOR BINDING; REVIEW; SEGAWA DISEASE; SEROTONINERGIC NERVE CELL; SEX DIFFERENCE; SHORT STATURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; STERNOCLEIDOMASTOID MUSCLE; SUBSTANTIA NIGRA; TENDON REFLEX; TORTICOLLIS; TREATMENT OUTCOME; TREATMENT RESPONSE; TREMOR; WILSON DISEASE;

DYSTONIA; FEMALE; GTP CYCLOHYDROLASE; HUMANS; MALE;

EID: 60549116697     PISSN: 20720939     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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