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有关ＣＡＤＡＳＩＬ的研究是近年来证实遗传因素参与ＣＶＤ发病的重要进展之一。家族遗传方式起病，中年发病且逐渐进展的缺血性脑卒中样病程，广泛多发的白质灶，明确的ＭＲＩ白质异常信号以及病理学明确的小动脉病变是本病的基本特征。分子遗传学研究表明：ＮＯＴＣＨ ３基因的多种点突变与本病有关。而基因诊断与外周组织活检相结合有可能是本病最有价值的生前诊断手段。
Research on CADASIL is one of the important progresses in confirming the involvement of genetic factors in CVD in recent years. Family history of hereditary onset, middle-aged onset and gradual progress of ischemic stroke-like course, a wide range of white matter lesions, clear MRI white matter abnormalities and pathologically clear arterioles lesions are the basic characteristics of the disease. Molecular genetic studies have shown that: NOTCH 3 gene multiple point mutations associated with the disease. The combination of genetic diagnosis and peripheral biopsy may be the most valuable prenatal diagnosis of the disease.