Novel GCH-1 mutations and unusual long-lasting dyskinesias inKorean families with dopa-responsive dystonia

Parkinsonism and Related Disorders

Volumn 19, Issue 12, 2013, Pages 1156-1159

  Lee, Jee Young ^a   Yang, Hee Joon ^b   Kim, Jong Min ^c   Jeon, Beom S ^b,d  

^a Seoul National University Boramae Hospital   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c Seoul National University Bundang Hospital   (South Korea)

^d Seoul National University   (South Korea)

Author keywords

Dopa responsive dystonia; GTP cyclohydrolase I gene; Korean

Indexed keywords

DOPAMINE TRANSPORTER; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; NEOPTERIN;

ADOLESCENT; ADULT; ARTICLE; CEREBROSPINAL FLUID LEVEL; CERVICAL DYSTONIA; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DOPA RESPONSIVE DYSTONIA; DRUG SAFETY; DRUG TOLERABILITY; DYSKINESIA; DYSTONIA; ETHNIC GROUP; FEMALE; FOLLOW UP; GCH 1 GENE; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; KOREAN; MALE; MIDDLE AGED; MOLECULAR IMAGING; ONSET AGE; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; YOUNG ADULT;

DOPA-RESPONSIVE DYSTONIA; GTP CYCLOHYDROLASE I GENE; KOREAN;

ADOLESCENT; ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DOPAMINE AGENTS; DYSKINESIAS; DYSTONIC DISORDERS; FAMILY; FEMALE; GTP CYCLOHYDROLASE; HUMANS; INFANT; LEVODOPA; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENYLKETONURIAS; YOUNG ADULT;

EID: 84889094117     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2013.08.003     Document Type: Article

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