Abe Koji, Murakami Tetsuro, Matsubara Etsuro, Manabe Yasuhiro, Nagano Isao, Shoji Mikio
Department of Neurology, Okayama University Graduate School of Medicine and Dentistry, 2-5-1 Shikata-cho, Okayama 700-8558, Japan.
Ann N Y Acad Sci. 2002 Nov;977:266-72. doi: 10.1111/j.1749-6632.2002.tb04825.x.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disease characterized by recurrent transient ischemic attacks, strokes, and vascular dementia. Various mutations in the Notch3 gene cause the disease, whereas the mechanism of how they cause the disorder remains unknown. We recently identified two Japanese CADASIL families with an R141C mutation. The mean age of onset was 44.6, and the main symptoms were recurrent strokes and progressive motor disturbances in extremities, as well as pseudobulbar palsy. Besides those in white matter and basal ganglia, ischemic lesions in temporal edge and corpus callosum were present on magnetic resonance images, which seemed to be characteristic of CADASIL. Moreover, in our cases, nocturnal arterial blood pressure fall was significantly lower in patients compared with control subjects, suggesting that it might be partly associated with ischemic lesions in deep white matter in CADASIL. We also compared Japanese and Caucasian CADASIL cases and found that dementia and pseudobulbar palsy were observed more frequently in Japanese patients, although typical migraine was rather rare. In the present study, we describe the clinical features of CADASIL, hoping to help reveal the mechanism of chronic ischemic brain diseases, including leukoaraiosis or Binswanger's disease.
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）是一种罕见的遗传性疾病，其特征为反复发生短暂性脑缺血发作、中风和血管性痴呆。Notch3基因的各种突变导致了该疾病，但其致病机制仍不清楚。我们最近鉴定出两个携带R141C突变的日本CADASIL家系。发病的平均年龄为44.6岁，主要症状为反复中风、肢体进行性运动障碍以及假性延髓麻痹。除了白质和基底节区的病变外，磁共振图像上还显示颞叶边缘和胼胝体有缺血性病变，这似乎是CADASIL的特征。此外，在我们的病例中，与对照组相比，患者夜间动脉血压下降明显更低，这表明它可能与CADASIL患者深部白质的缺血性病变部分相关。我们还比较了日本和高加索CADASIL病例，发现痴呆和假性延髓麻痹在日本患者中更常见，尽管典型偏头痛相当罕见。在本研究中，我们描述了CADASIL的临床特征，希望有助于揭示包括白质疏松症或宾斯旺格病在内的慢性缺血性脑疾病的发病机制。
