Abstract
The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a clinically rare hereditary disease of micro-arteries in the middle-aged people. It is single-gene hereditary stroke disorders caused by Notch3 gene mutations on chromosome 19. Patients with early onset have migraine attack history, middle-aged cases show recurrent episodes of transient ischemic attack (Transient ischemic attack, TIA) or cerebral ischemic stroke, and patients with advanced disease may appear progressive increase in dementia and psychiatric symptoms. Bilateral cerebral hemisphere multiple white matter lesions with head magnetic resonance imaging (MRI) are the characteristics of imaging findings of the disease. This paper summarizes the clinical research progress, including clinical manifestations, neuroimaging performance, CADASIL scale, pathology and molecular genetics, in order to deepen the understanding of this disease and thus contribute to its early diagnosis, reduction of misdiagnosis and missed diagnosis. Key words: CADASIL; Notch3 gene; Leukoencephalopathy; Treatment
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