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도파 반응성 근육긴장이상, Segawa병 1례

Other Titles
 A Case of Dopa-Responsive Dystonia, Segawa Disease 
 강훈철  ;  이현숙  ;  김흥동 
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.12(1) : 99-104, 2004 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
Issue Date
Segawa disease ; Dopa-responsive dystonia ; GTP cyclohydrolase I ; Neopterin
Segawa disease, hereditary progressive dystonia with marked diurnal fluctuations or defined dopa-responsive dystonia has age-dependent clinical courses, which are characterized with marked progression in the first one and half decades, its subsiding in the third decade and almost stationary courses after the fourth decade. Also, it has characteristic diurnally fluctuating symptoms, aggravated towards the evening and alleviated after sleep. This autosomally dominantly inherited dystonia is caused by abnormalities of the gene of GTP cyclohydrolase I. The heterozygotic gene´s abnormality induces partial decrement of tetrahydrobiopterin and affects synthesis of tyrosine hydroxylase(TH) rather selectively. The reduction of TH induces decrement of dopamine and disfacilitates the Dl receptor-striatal direct pathway. The pathognomonic finding in biochemical examination is the decrease of neopterin in the cerebrospinal fluid(CSF). Levodopa, by replacing dopamine contents at the terminal, alleviates motor symptoms completely and the effects sustain without any side effects. We experienced a girl diagnosed as Segawa disease with typical clinical courses and a decrease of neopterin in the CSF.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
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