Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree A case report using brain magnetic resonance imaging and biospy
The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive deficits. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes, in particular the pons. In addition, multiple cerebral infarction was identified in the proband. Sural nerve biopsy findings of the proband revealed granular osmophilic material deposits in the extracellular matrix, which were adjacent to smooth muscle cells of dermal arterioles. Screening exons 2-4 for NOTCH 3 mutations by direct sequencing did not reveal any abnormalities.
基金：
Beijing Municipal Education Commission Science and Technology Development Project(No. KM200910025015)
第一作者机构：[1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100063, China
共同第一作者：
通讯作者：
通讯机构：[1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100063, China
推荐引用方式(GB/T 7714)：
Erhe Xu,Huiqing Dong,Milan Zhang,et al.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree A case report using brain magnetic resonance imaging and biospy[J].NEURAL REGENERATION RESEARCH.2012,7(3):224-228.doi:10.3969/j.issn.1673-5374.2012.03.012.
APA：
Erhe Xu,Huiqing Dong,Milan Zhang&Min Xu.(2012).Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree A case report using brain magnetic resonance imaging and biospy.NEURAL REGENERATION RESEARCH,7,(3)
MLA：
Erhe Xu,et al."Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree A case report using brain magnetic resonance imaging and biospy".NEURAL REGENERATION RESEARCH 7..3(2012):224-228
