摘要
目的研究皮肤活检在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(CADASIL)中的诊断价值。方法 12例患者分别来自4个不同的CADASIL家族,均以发作性头晕、头痛、卒中和痴呆为主要表现。基因检查证实均存在Notch3基因突变。12例患者均做皮肤活检,16例同龄的非CADASIL患者作为对照,评估超微结构GOM沉积方法和Notch3N-末端多克隆抗体免疫组化方法的敏感性和特异性。结果 12例患者超微结构GOM沉积的敏感性为58.3%,特异性为93.8%;而用Notch3N-末端多克隆抗体的免疫组化方法的敏感性66.6%,特异性96.9%;将两种方法结合其敏感性为91.7%,特异性为95.4%。结论将皮肤活检中超微结构GOM检查和Notch3N-末端多克隆抗体的免疫组化方法结合起来能有效提高CADASIL确诊率,可运用于CADASIL的诊断。
Objective To study the value of skin biopsy in the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL）.Methods Twelve patients from 4 different CADASIL families who had the main manifestations including dizziness,headache,recurrent stroke and dementia. The genetic examinations showed Notch3 gene mutations in all of the patients. Skin biopsies were performed in the 12 patients. Sixteen non-CADASIL patients at the same age severed as the controls. The sensitivity and specificity of ultrastructural GOM deposite and NOTCH3 N-terminal polyclonal antibody for the diagnosis of CADASIL were evaluated.Results The sensibility of ultrastructural GOM deposite in the 12 patients was 58.3% and the specificity was 93.8%. The sensibility of NOTCH3 N-terminal polyclonal antibody was 66.6% and the specificity was 96.9%. With a combination of the two methods,the sensibility and the specificity for the diagnosis of CADASIL were 91.7% and 95.4%,respectively.Conclusions A combination of ultrastructural GOM examination with NOTCH3 N-terminal polyclonal antibody can improve the diagnostic efficiency of CADASIL.
出处
《国际神经病学神经外科学杂志》
2010年第3期222-225,共4页
Journal of International Neurology and Neurosurgery
