Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy with a Novel NOTCH3 Cys323Trp Mutation Presenting Border-Zone Infarcts: A Case Report and Literature Review

被引:5
|
作者
Tojima, Maya [1 ]
Saito, Satoshi [2 ]
Yamamoto, Yumi [2 ]
Mizuno, Toshiki [3 ]
Ihara, Masafumi [4 ]
Fukuda, Hidetoshi [1 ]
机构
[1] Saiseikai Noe Hosp, Dept Neurol, Osaka, Japan
[2] Natl Cerebral & Cardiovasc Ctr, Dept Regenerat Med & Tissue Engn, 5-7-1 Fujishiro Dai, Suita, Osaka 5658565, Japan
[3] Kyoto Prefectual Univ Med, Dept Neurol, Kyoto, Japan
[4] Natl Cerebral & Cardiovasc Ctr, Dept Stroke & Cerebrovasc Dis, Suita, Osaka, Japan
来源
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES | 2016年 / 25卷 / 08期
关键词
CADASIL; C323W; exon; 6; infarct; dysautoregulation; CADASIL;
D O I
10.1016/j.jstrokecerebrovasdis.2016.05.013
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary and progressive small-vessel disease caused by NOTCH3 mutations, pathologically characterized by the degeneration of vascular mural cells, white matter changes, and ischemic strokes. Recently, dysautoregulation has received increasing attention regarding the pathogenesis of stroke in CADASIL. Here, we report a CADASIL case with a novel Cys323Trp mutation in the NOTCH3 gene, which suggests a close relationship between hemodynamic factors and clustering of cerebral infarctions in CADASIL. A 47-yearold male patient presented with internal border-zone infarcts in the bilateral hemispheres and was diagnosed with CADASIL by the presence of granular osmiophilic material and the accumulation of the Notch3 extracellular domain around small vessels. A literature review revealed 7 reports of similar CADASIL cases with clustering of cerebral infarctions related to blood pressure fluctuations. Not only large-artery stenosis but also small-vessel pathologies potentiate watershed infarctions, which might be triggered by hemodynamic fluctuation due to cerebral dysautoregulation.
引用
收藏
页码:E128 / E130
页数:3
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