J Korean Child Neurol Soc.  2004 May;12(1):99-104.

A Case of Dopa-Responsive Dystonia, Segawa Disease

• Kang HC
• Lee HS
• Kim HD

Abstract

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 D1 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.

Keyword

Segawa disease; Dopa-responsive dystonia; GTP cyclohydrolase I; Neopterin

MeSH Terms

Dopamine
Dystonia*
Female
Genetic Diseases, Inborn
GTP Cyclohydrolase
Humans
Levodopa
Neopterin
Tyrosine
Dopamine
GTP Cyclohydrolase
Levodopa
Neopterin
Tyrosine