脑桥常染色体显性微血管病和脑白质病
Pontine autosomal dominant microangiopathy and leukoencephalopathy
焉传祝 1段若楠1
作者信息
- 1. 山东大学齐鲁医院神经内科,济南 250012
- 折叠
摘要
脑桥常染色体显性微血管病和脑白质病(PADMAL)是一种极为罕见的常染色体显性遗传的脑小血管病.随着致病基因COL4A1的发现,近年来国际上已报道多个PADMAL家系.PADMAL的病理机制是COL4A1基因3'端非转录区突变引起的Ⅳ型胶原蛋白增多,细胞外机制内异常集聚的胶原蛋白导致基底膜增厚、管腔狭窄.患者早期表现为反复发作的腔隙性梗死,随着疾病进展可以出现认知障碍.脑桥多发的腔隙性梗死以及双侧大脑半球白质病变是PADMAL的主要影像学改变.电镜扫描下皮肤小血管管腔明显变窄并伴有基底膜增厚.目前,PADMAL尚无有效的治疗手段和干预措施.
Abstract
Pontine autosomal dominant microangiopathy and leukoencephalopathy(PADMAL)is an extremely rare autosomal dominant cerebral small vessel disease.Since the discovery of the pathogenic gene COL4A1,several PADMAL pedigrees have been reported in recent years.The pathogenesis of PADMAL is due to the increased formation of type Ⅳ collagen caused by mutation of the 3'untranslated region of COL4A1.Abnormal accumulation of collagen in the extracellular matrix leads to thickening of the basement membrane and narrowing of the lumen.Patients present with recurrent lacunar infarction at early stage,and cognitive impairment may occur as the disease progresses.The main imaging changes of PADMAL are multiple lacunar infarcts and bilateral hemispherical white matter lesions.Under electron microscope,the lumen of small blood vessels in the skin is obviously narrowed and the basement membrane is thickened.Currently,there are no effective treatments or interventions for PADMAL.
关键词
脑小血管病/缺血性脑卒中/梗死,腔隙性/COL4A1蛋白,人类Key words
Cerebral small vessel diseases/Ischemic stroke/Stroke,lacunar/COL4A1 protein,human引用本文复制引用
出版年
2024
NETL
NSTL
万方数据