Ruchoux M M, Maurage C A
Neuropathology Department, Hospital Roger Salengro, CHRU, Lille, France.
Neuropathol Appl Neurobiol. 1998 Feb;24(1):60-5. doi: 10.1046/j.1365-2990.1998.00087.x.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is characterized by the deposition of granular osmiophilic material in association with vascular smooth muscle cells in many different organs. However, the cause of the subsequent destruction of smooth muscle cells that are surrounded by granular osmiophilic material is unclear. In the present study, the ultrastructural changes that occur in endothelial cells in CADASIL have been evaluated by examining blood vessels in six skin biopsies and seven muscle biopsies belonging to three different CADASIL pedigrees. The appearances have been compared with five skin biopsies and five muscle biopsies from age-matched controls without vascular disease. The most striking features observed in vessels in the skin of CADASIL patients were attenuation of endothelial cells and increased density of endothelial cytoplasm, accompanied by the presence of compact bundles of microfilaments within the cytoplasm of endothelial cells. Endothelial cells in muscle biopsies from CADASIL patients, on the other hand, were swollen until destruction of tight junctions were observed. These findings suggest that impaired permeability of vascular endothelium may play a role in the destruction of vascular smooth muscle cells in CADASIL. Furthermore, the results of this study suggest that further fine structural investigation of blood vessel endothelium and underlying smooth muscle may lead to a better understanding of the pathophysiology of CADASIL.
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）的特征是在许多不同器官中，颗粒嗜锇物质与血管平滑肌细胞一起沉积。然而，被颗粒嗜锇物质包围的平滑肌细胞随后被破坏的原因尚不清楚。在本研究中，通过检查来自三个不同CADASIL家系的六份皮肤活检组织和七份肌肉活检组织中的血管，评估了CADASIL患者内皮细胞发生的超微结构变化。将这些表现与来自无血管疾病的年龄匹配对照的五份皮肤活检组织和五份肌肉活检组织进行了比较。在CADASIL患者皮肤血管中观察到的最显著特征是内皮细胞变薄和内皮细胞质密度增加，同时内皮细胞质内存在紧密排列的微丝束。另一方面，CADASIL患者肌肉活检组织中的内皮细胞肿胀，直至观察到紧密连接被破坏。这些发现表明，血管内皮通透性受损可能在CADASIL患者血管平滑肌细胞的破坏中起作用。此外，本研究结果表明，对血管内皮和其下平滑肌进行进一步的精细结构研究可能有助于更好地理解CADASIL的病理生理学。
