Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephaloapthy (CADASIL): a hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephaloapthy (CADASIL): a hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy.
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伴有皮质下梗塞和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）：一种遗传性脑血管疾病，可通过皮肤活检电镜诊断。
DOI：
10.1097/01.dad.0000136691.96212.ec
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发表时间：
2005
期刊：
影响因子：
--
通讯作者：
Masaru Tanaka
中科院分区：
文献类型：
--
作者：
A. Ishiko;A. Shimizu;E. Nagata;K. Ohta;Masaru Tanaka
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）是一种遗传性脑血管病，其特征是由于Notch3基因突变导致的在30或40年开始的复发性皮质下缺血性中风。血管平滑肌细胞周围的颗粒状嗜锇物质（GOM）沉积是一个特殊的特征，皮肤活检的电子显微镜观察有助于诊断。一名39岁女性患者出现头晕、视野异常和偏瘫，一名42岁男性患者出现耳鸣和头晕，根据MRI结果怀疑患有CADASIL。这两个病例都显示在真皮深层小动脉的血管平滑肌细胞周围有直径为200至800 nm的GOM特征性沉积，因此诊断为CADASIL，尽管没有脑血管疾病或痴呆的家族史。皮肤科医生应该注意这些超微结构的发现，因为这种疾病可能会零星发生，可能比最初想象的更常见。
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease characterized by recurrent subcortical ischemic strokes starting in the third or fourth decade as a result of mutations in the Notch3 gene. Granular osmiophilic material (GOM) deposition around the vascular smooth muscle cells is a specific feature and electron microscopic observations of skin biopsies are useful for this diagnosis. A 39-year-old female with dizziness, abnormal visual fields, and hemiplegia, and a 42-year-old male with tinnitus and dizziness, were suspected of suffering from CADASIL based on MRI findings. Both cases were shown to have characteristic deposits of GOM, 200 to 800 nm in diameter, around the vascular smooth muscle cells of small arteries in the deep dermis, and thus the diagnoses of CADASIL were made, although there was no family history of cerebrovascular disorders or dementia. Dermatologists should be aware of these ultra-structural findings because this disease may occur sporadically and might be more common than initially thought.
影响因子：
8.3
作者：
Desmond, DW;Moroney, JT;Mohr, JP
通讯作者：
Mohr, JP