Cerebral autosomal dominant arteriopathy with subcortical infarcts and lecukoencephalopathy / 医学研究生学报

ABSTRACT

Cerebral autosomal dominant arteriopathy with subcortical infarcts and lecukoencephalopathy (CADASIL) is a recently described neurovascular disease affecting young to middle aged individuals. The disease is caused by mutations in the Notch3 gene located in the long arm of chromosome 19. The disease clinically is characterized by migrainous headaches ,mood disturbances, focal neurologic deficits, transient ischemic attaches, strokes and dementia. Pathologically, the disease is characterized by a stereotypic degeneration of the arterial walls with deposition in the media of a nonatheromatous,(nonamyloidotic) substance that under the electron microscope (EM) appears as a granular osmiophilic material (GOM). A review of current literature is presented concerning the clinical, radiological, pathologic and genetic feature of CADASIL.