Dziewulska Dorota
Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Folia Neuropathol. 2009;47(1):1-10.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a systemic vascular disease characterized by impairment of vascular smooth muscle cell (VSMC) structure and function related to NOTCH 3 mutations. Clinically the syndrome is manifested as recurrent ischaemic strokes, migraine with aura, dementia and psychiatric symptoms. In spite of intensive investigations, there is relatively little insight into the underlying pathomechanisms that link VSMC with the Notch 3 signalling pathway, morphological changes and clinical symptoms. The introduction into neuropathology of novel immunohistochemical and molecular techniques opened new research and diagnostic perspectives in CADASIL studies. We present a review of current concepts regarding CADASIL pathogenesis, clinical picture and diagnosis in which neuropathological examinations played a key role.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是一种系统性血管疾病，其特征是与NOTCH 3突变相关的血管平滑肌细胞（VSMC）结构和功能受损。临床上，该综合征表现为复发性缺血性中风、伴有先兆的偏头痛、痴呆和精神症状。尽管进行了深入研究，但对于将VSMC与Notch 3信号通路、形态学改变及临床症状联系起来的潜在发病机制仍知之甚少。新型免疫组织化学和分子技术引入神经病理学，为CADASIL研究开辟了新的研究和诊断前景。我们对目前有关CADASIL发病机制、临床表现和诊断的概念进行综述，其中神经病理学检查发挥了关键作用。
