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["伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病"——一种新发现的遗传性脑血管疾病]

["CADASIL"--a newly discovered hereditary cerebrovascular disease].

作者信息

Søndergaard H, Jørgensen H S, Olsen T S

机构信息

H:S Bispebjerg Hospital, neurologisk afdeling.

出版信息

Ugeskr Laeger. 1998 Mar 9;160(11):1617-20.

PMID:9522653
Abstract

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy) is a newly discovered inherited cerebrovascular disease characterized clinically by recurrent stroke-like incidents, dementia and often pseudobulbar palsy. Neuroimaging reveals intensive subcortical changes and pathologically one finds apparently systemic changes concerning the vessels such as thickening of the vessel wall, loss of smooth muscle cells and patches of granular material of unknown origin. The disease is not associated with atherosclerosis and vascular risk factors are missing or few. The CADASIL-locus maps to chromosome 19, but the gene has not yet been identified. Treatment and pathogenesis are unknown. In a Danish stroke population (The Copenhagen Stroke Study) no CADASIL-suspected cases were found among patients < or = 55 years, indicating a rare disease as far as Denmark is concerned.

摘要

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)是一种新发现的遗传性脑血管疾病,其临床特征为反复发作的类中风事件、痴呆,且常伴有假性延髓麻痹。神经影像学检查显示皮质下有密集病变,病理检查发现血管存在明显的全身性改变,如血管壁增厚、平滑肌细胞缺失以及来源不明的颗粒状物质斑块。该疾病与动脉粥样硬化无关,且不存在或仅有少数血管危险因素。CADASIL基因座定位于19号染色体,但相关基因尚未确定。其治疗方法和发病机制尚不清楚。在丹麦的一个中风人群(哥本哈根中风研究)中,年龄≤55岁的患者中未发现疑似CADASIL的病例,就丹麦而言,这表明该病较为罕见。

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