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Segawa病的发病与黑质多巴胺神经元轴突末端酪氨酸羟化酶活性下降有关,在儿童的生长发育阶段,多巴胺活性随年龄而逐渐下降,本病的发病年龄多在多巴胺活性急剧下降的阶段(10左右),症状进行性加重,至30岁以后趋于稳定。最可靠和最有诊断意义的实验室检查是测定脑脊液中生物喋呤和新喋呤的含量,以及外周血单核细胞内三磷酸鸟苷环化水解酶(GTPcyclohydrolase,GCH-1)活性。本病患者黑质神经细胞数量正常。迄今在GCH-1基因的6个外显子已经发现各种形式的突变。
The pathogenesis of Segawa’s disease is related to the decrease of tyrosine hydroxylase activity in the axon terminals of substantia nigra dopamine neurons. During the growth and development of children, the dopamine activity gradually decreases with age. The age at onset of this disease is drastically decreased in dopamine activity Stage (10 or so), progressive symptoms, to stabilize after the age of 30. The most reliable and most diagnostic laboratory tests are the determination of biopterin and neopterin in cerebrospinal fluid and the activity of GTP-Cyclohydrolase (GCH-1) in peripheral blood mononuclear cells. The number of patients with normal nigral neurons. To date, various forms of mutations have been found in the six exons of the GCH-1 gene.