Dopa-responsive dystonia - Clinical and genetic heterogeneity

Nature Reviews Neurology

Volumn 11, Issue 7, 2015, Pages 414-424

  Wijemanne, Subhashie ^a   Jankovic, Joseph ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; CARBIDOPA; DECARBOXYLASE INHIBITOR; DOPAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; LEVODOPA; NEOPTERIN; PHENYLALANINE; SEPIAPTERIN REDUCTASE; TETRAHYDROBIOPTERIN; TYROSINE 3 MONOOXYGENASE;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD ANALYSIS; CEREBROSPINAL FLUID ANALYSIS; CIRCADIAN RHYTHM; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; DOPA RESPONSIVE DYSTONIA; DOPAMINE METABOLISM; DRUG DOSE INCREASE; DYSTONIA; EARLY DIAGNOSIS; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LOW DRUG DOSE; MUTATIONAL ANALYSIS; NEUROIMAGING; PARKINSONISM; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; REVIEW; SEGAWA DISEASE; SEPIAPTERIN REDUCTASE DEFICIENCY; SEQUENCE ANALYSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPINOCEREBELLAR DEGENERATION; TYROSINE HYDROXYLASE DEFICIENCY; WHOLE EXOME SEQUENCING; ADOLESCENT; ADULT; CHILD; DYSTONIC DISORDERS; GENETICS; INFANT; MIDDLE AGED; NEWBORN; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DYSTONIA; DYSTONIC DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; MIDDLE AGED; YOUNG ADULT;

EID: 84936847194     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2015.86     Document Type: Review

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