The diagnose of CADASIL can be based on the dominant family history,clinical and imaging characteristics,specific GOM deposition on the basement of smooth muscle cell,and the search of point mutation on Notch 3.

 
  • 根据明确的显性遗传家族史、临床及影像学特点、电镜下平滑肌基底膜可见GOM以及Notch3基因检查,可以明确CADASIL的诊断。
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