【摘 要】
：
伴皮层下囊肿的巨脑性白质脑病(Megalencephalic leukoencephalopathy with subcortical cysts,MLC)是一种常染色体隐性遗传的单基因遗传病,典型表现为出生后头围大与缓
【机 构】
：
北京大学第一医院儿科,北京100034MontrealNeurologicalInstitute,Montreal,Quebec,Canada山西医科大学,太原030001
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伴皮层下囊肿的巨脑性白质脑病(Megalencephalic leukoencephalopathy with subcortical cysts,MLC)是一种常染色体隐性遗传的单基因遗传病,典型表现为出生后头围大与缓慢进展性运动功能障碍如走路不稳、共济失调、肢体痉挛和瘫痪.头颅MRI特征性改变为弥漫性大脑白质信号异常及肿胀,伴有双侧颞叶、额叶前部和额顶交界区特征性的皮层下囊肿.其致病基因于2001年定位并命名为MLC1. MLC1基因包含12个外显子,编码377个氨基酸的MLC1蛋白,包含8个跨膜功能域,其功能尚未明确.到目前为止,人类基因突变数据库(Human Gene Mutation Database)中报道的与MLC相关的MLC1基因突变有100余种,尚未见中国人MLC1基因突变的报道.
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