首页|期刊导航|中国神经再生研究（英文版）|Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree
中国神经再生研究（英文版）2012，Vol.7Issue(3)：224-228,5.DOI:10.3969/j.issn.1673-5374.2012.03.012
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree
摘要
Abstract
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.关键词
cerebral autosomal dominant arteriopathy/dysarthria/granular osmophilic material/leukoencephalopathy/NOTCH 3/paresis/subcortical infarctsKey words
cerebral autosomal dominant arteriopathy/dysarthria/granular osmophilic material/leukoencephalopathy/NOTCH 3/paresis/subcortical infarcts引用本文复制引用
Erhe Xu,Huiqing Dong,Milan Zhang,Min Xu..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree[J].中国神经再生研究（英文版）,2012,7(3):224-228,5.基金项目
This study was supported by the Beijing Municipal Education Commission Science and Technology Development Project,No.KM200910025015. （）
