A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

被引：0

作者：

Aleksandra M. Pavlovic

V. Dobricic

R. Semnic

V. Lackovic

I. Novakovic

M. Bajcetic

N. Sternic

机构：

[1] University of Belgrade,Neurology Clinic, Faculty of Medicine

[2] University of Novi Sad,Oncology Institute of Vojvodina, Sremska Kamenica, Faculty of Medicine

[3] University of Belgrade,Institute of Histology and Embryology, Faculty of Medicine

来源：

Acta Neurologica Belgica | 2013年 / 113卷

关键词：

CADASIL; Exon 3; Notch3; Stroke; White matter lesions;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.

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页码：299 / 302

页数：3

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