【摘 要】
：
白质消融性白质脑病((1)eukoencephalopathy with vanishing white matter,VWM)又称儿童共济失调伴中枢神经系统髓鞘化不良(childhood ataxia with central nervous syst
【机 构】
：
北京大学第一医院儿科,北京100034山西医科大学第一临床医学院太原,030001;北京大学第一医院儿科,北京100034
论文部分内容阅读
白质消融性白质脑病((1)eukoencephalopathy with vanishing white matter,VWM)又称儿童共济失调伴中枢神经系统髓鞘化不良(childhood ataxia with central nervous system hypomyelination,CACH)(OMIM 603896),是一种常染色体隐性遗传的单种基因遗传病,典型表现为运动智力倒退,运动倒退重于智力,共济失调,可伴视神经萎缩及癫痫,感染或轻微头部外伤可明显加重病情。头颅MRI特征性改变为双侧对称弥漫性深部白质长T1长T2信号,可累及皮层下白质,额、顶叶为主,Flair像为对称性自质高信号伴部分白质低信号甚至囊性变或大部分白质低信号仅存少量线状稍高信号。其致病基因于2001年定位于真核细胞翻译启动因子的编码基因EIF281-5,任一基因突变可导致该病。是人类遗传性疾病中第一个确定的由于翻译启动异常导致的疾病。
其他文献
miR393, which is encoded by MIR393a and MIR393b in Arabidopsis, post-transcriptionally regulates mRNAs for the F-box auxin receptors TIR1 (Transport Inhibit
In plants, programmed cell death (PCD) is of fundamental importance for various developmental processes, and plays important roles in regulating adaptive re
Cyanobacteria in freshwater ecosystems can present a harmful effect on growth and development of plants through irrigation with contaminated water.Based on
A protein encoded by Atlg32080 was uniformly identified in proteomics of Arabidopsis chloroplast envelope membrane proteins, but its function remained uncle
The variation of expression pattern exhibited by a transgene as a result of random integration, known as position effect, is, among other mechanisms, a part
Menkes病(Menkes disease,MD,MIM309400)是一种罕见的X连锁隐性遗传病,国外报道其发病率约为1/50,000-1/250,000活产婴儿.致病基因ATP7A基因突变导致铜转运障碍而引起的