CADASIL的磁共振影像学、临床表现及Notch3基因的研究

Study of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:MRI, Notch3 Gene and Clinical Features

目的探讨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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)的临床、影像学特点和基因突变类型。方法收集非家系CADASIL患者,对其颅脑磁共振成像(magnetic resonance imaging,MRI)特点、临床表现和基因检测结果进行回顾性分析。结果本研究共收录11例患者,其中患有头痛者5例(45.45%)、记忆力下降者5例(45.45%)。11例患者均进行了MRI检查,有脑干损害的患者7例(63.63%),其中脑干损害患者全部存在脑桥病变。进行心理评测的7例患者中存在焦虑和(或)抑郁的患者有4例(57.14%)。5例患者进行了基因检测,其中4例(80%)为Notch3基因外显子4位点突变,1例(20%)为Notch3基因外显子3位点突变。结论头痛是CADASIL患者的重要临床特点;脑桥是CADASIL患者常见的脑干受累部位。

Objective To investigate the MRI and clinical features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL）. Methods A retrospective study about 11 inpatients suffered CADASIL was carried out in Beijing Tiantan Hospital from August 2010 to November 2012, which included magnetic resonance imaging （MRI）, clinical features, direct sequencing of Notch3 gene and/or skin biopsies of patients.Results The clinical features showed headache was 45.45% （5/11 cases）; memory decline was 45.45% （5/11 cases）; presence of anxiety and/or depression was 57.14% （4/7 cases）. The MRI showed the pontine lesion was 63.63% （7/11 cases）; the damage of temporal pole was 54.54%（6/11 cases）. Five patients were performed with direct sequencing of Notch3 gene, in which four mutations occurred in exon 4 and one mutation in exon 3. Conclusion The migraine is an important clinical feature of CADASIL patients. Pons is a common damage location in CADASIL patients involved brain stem.