Zhongguo cuzhong zazhi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）是NOTCH3基因突变所致的遗传性脑小血管病，主要病变血管为颅内小动脉，累及大脑皮质和颅内大/中动脉的报道较罕见，目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例，并结合文献进行讨论 ...
刘昱君，刘雷媛，徐炳东，韩建邦，杨冰，丁燕，杨英，孟珩，张玉生 (LIU Yujun, LIU Leiyuan, XU Bingdong, HAN Jianbang, YANG Bing, DING Yan, YANG Ying, MENG Heng, ZHANG Yusheng )
doaj +1 more source
CADASIL: Notch signaling defect or protein accumulation problem? [PDF]
, 2000 Nancy B. Spinner
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Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial [PDF]
Background and Purpose-Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a rare autosomal dominant disorder caused by NOTCH3 mutations, is characterized by vascular smooth muscle and endothelial cells ...
Campolo, Jonica +6 more
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Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy [PDF]
, 2018 Several hereditary conditions affecting cerebral, retinal and systemic microvessels have recently been described. They include CADASIL, CRV, and HERNS. We here report on a variant form of a hereditary systemic angiopathy (HSA) affecting two generations ...
Devys, D. +9 more
core
Disturbances of Ocular Circulation in Color Doppler Imaging, Retinal Changes and Electrophysiological Tests with Neuro-Ophthalmological Clinical Symptoms in the Course of CADASIL Syndrome—A Case Report [PDF]
, 2023 Monika Modrzejewska +3 more
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APT-II training in CADASIL: Can a Behavioral Treatment Build Cognitive Reserve? [PDF]
, 2010 A single-subject, multiple-baseline across behaviors study examined the effectiveness of a modified version of Attention Process Training – II (APT-II) to treat attention in an individual with a history of multiple ischemic small-vessel infarcts and a ...
Bishop, Lilli +2 more
core
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene [PDF]
, 2000 Craen, Margarita +5 more
core +3 more sources