伴皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病的研究进展  

The research progress of CARASIL

作　　者：李改 赵静 王华园 孙瑞华 张昊晗 时英英 张杰文 LI Gai;ZHAO Jing;WANG Huayuan;SUN Ruihua;ZHANG Haohan;SHI Yingying;ZHANG Jiewen(People′s Hospital of Zhengzhou University,Zhengzhou 450003,China)

机构地区：[1]郑州大学人民医院,河南郑州450003

出　　处：《中国实用神经疾病杂志》2020年第15期1354-1358,共5页Chinese Journal of Practical Nervous Diseases

基　　金：国家自然科学基金(编号:81873727)。

摘　　要：脑小血管病是各种原因引起的脑小动脉、小静脉、毛细血管病理性变化的一组疾病的统称,绝大部分是散发的,少部分与遗传相关。CARASIL是一种罕见的非高血压性的遗传性脑小血管病。其致病基因由10号染色体上HTRA1基因的双等位突变引起。CARASIL患者早期可出现脱发、反复缺血性卒中、认知功能障碍、脊椎变形、腰痛等症状。头颅MRI常见的表现为双侧弥漫性白质高信号及分布于丘脑及基底节区的腔隙性梗灶。神经病理学检查可见脑小动脉粥样硬化伴内膜增厚、胶原纤维致密、血管平滑肌细胞丢失、中膜玻璃样变性,主要发生在小穿通动脉,无颗粒状嗜锇性物质(granular osmiophilic material,GOM)或淀粉样蛋白沉积。现就CARASIL的临床特征、影像特征、病理特征、遗传学特点、治疗的现状和进展做一综述。Cerebral small vessel diseases refer to a group of diseases caused by all pathological changes of cerebral arterioles,venules and capillaries.Most of them are sporadic while a small part is genetic.CARASIL is a rare non-hypertensive genetic cerebral vascular disease.The pathogenic gene was found to be HTRA1(high-temperature requirement A serine peptidase 1)on chromosome 10.CARASIL patients may experience early alopecia,recurrent ischemic strokes,cognitive impairment,spinal deformity,lumbago and other symptoms.he most common characteristic features of MRI are diffuse white matter hyperintensity distributed bilaterally and lacunar infarcts distributed in thalamus and basal ganglia.Neuropathologic examination revealed atherosclerosis in small cerebral arteries with thickening of intima,dense collagen fibers,loss of vascular smooth muscle cells,and hyaline degeneration in the middle membrane.It mainly occurs in small perforating arteries,without granular osmiophilic material(GOM)or amyloid deposition.This review summarizes the clinical characteristics,image features,pathology,genetics,and the status and progress of treatment of CARASIL.

关 键 词：常染色体隐性遗传性脑动脉病 HTRA1 脑卒中 脑白质病变 TGF-β 

分 类 号：R743.33[医药卫生—神经病学与精神病学]