常染色体显性大脑动脉病-皮质下梗死-脑白质病
CADASIL
定义 英文原文（暂无中文）
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.
别名
遗传性多灶梗塞性痴呆
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NOTCH3 | notch receptor 3 | Disease-causing germline mutation(s) in |
临床表型 40
极常见 99–80%4
- 脑白质形态异常 HP:0002500
- 腔隙性中风 HP:0032325
- 白质脑病 HP:0002352
- 多灶性脑白质高信号的MRI表现 HP:0040329
常见 79–30%8
- 情感淡漠 HP:0000741
- 脑缺血 HP:0002637
- 认知功能损害 HP:0100543
- 情绪不稳 HP:0000712
- 偏头痛 HP:0002076
- 有先兆偏头痛 HP:0002077
- 卒中 HP:0001297
- 短暂性脑缺血发作 HP:0002326
偶见 29–5%27
- 焦虑 HP:0000739
- 动脉狭窄 HP:0100545
- 思维过程异常缓慢 HP:0031843
- 脑萎缩 HP:0012444
- 脑出血 HP:0001342
- 意识模糊 HP:0001289
- 痴呆 HP:0000726
- 抑郁 HP:0000716
- 糖尿病 HP:0000819
- 构音障碍 HP:0001260
- 吞咽困难 HP:0002015
- 脑病 HP:0001298
- 步态异常 HP:0001288
- 偏瘫 HP:0002301
- 高血压 HP:0000822
- 视空间结构认知障碍 HP:0010794
- 颅内出血 HP:0002170
- 缺血性脑卒中 HP:0002140
- 语言障碍 HP:0002463
- 意识丧失 HP:0007185
- 记忆障碍 HP:0002354
- 运动功能减退 HP:0002333
- 帕金森症 HP:0001300
- 复发性皮质下梗死 HP:0007236
- 癫痫发作 HP:0001250
- 痉挛 HP:0001257
- 应激性尿失禁 HP:0010992
罕见 <4–1%1
- 失语症 HP:0002381
近两年的全球研究 651L2
2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-09Corrigendum to "NOTCH3 R545C mutation drives vascular-neuronal dysfunction and cognitive impairment in CADASIL pathogenesis" [Neurobiology of Disease 224 (2026) 107404]
- 2026-09综述开放获取Cognition in Cardiovascular Disease
- 2026-09综述Hereditary cerebral small vessel disease: from phenotype to management
- 2026-09综述开放获取Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets
- 2026-09Spontaneous intracerebral hemorrhage as initial manifestation of CADASIL with a p.Arg578Cys variant in the exon 11 of NOTCH3
- 2026-09病例报告开放获取Inguinal kimura disease misdiagnosed as Castleman disease: A case report and analysis of ultrasonographic features
- 2026-09综述开放获取Border-Associated Macrophage Migrasomes in Alzheimer's Disease: An Emerging Aβ-Senescence-Microglia Axis?
- 2026-09开放获取Retinal Optical Coherence Tomography-Angiography and Longitudinal Changes in Cognition and Cerebral Small Vessel Disease
- 2026-09Long-term safety of CGRP pathway inhibitors in migraine patients with prior cerebrovascular or cardiovascular disease
- 2026-09开放获取Fibronectin mediates APOE4-driven blood-brain barrier dysfunction in Alzheimer's disease
- 2026-09综述开放获取Basic Principles of Skin Biopsy Optimization in Dermatopathology
- 2026-09开放获取Exploring cerebral small vessel disease signatures in familial Parkinson's disease
- 2026-09病例报告Potential contributors to variable penetrance of NOTCH3 p.Arg1231Cys Variant
- 2026-09开放获取MRI markers of brain fluid dynamics link reduced blood-brain barrier water exchange rate to disease severity in CADASIL
- 2026-09开放获取Impairment of hippocampal gamma oscillations, mitochondria and neurovascular function in CADASIL
- 2026-08综述开放获取Migraine: Epidemiology, Risk Factors, Pathophysiology, and Treatment
- 2026-08综述开放获取Headache Attributed to Genetic Vasculopathies
- 2026-08Arterial spin labeling-derived cerebral blood flow as a translational biomarker and candidate surrogate endpoint for cognitive impairment
- 2026-08开放获取Multiple Sclerosis Misdiagnosis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Genotype-Misphenotype Study
- 2026-08病例报告开放获取Late-Onset Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Presenting With Abnormal MRI Findings and Migraine: A Case Report
在中国开展的临床试验 3L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 2
- 招募中NCT04310098CADASIL Registry Study中国研究中心 1 个：Fuzhou
- 尚未开始招募NCT07692399Safety and Efficacy of Edaravone Dexborneol Sublingual Tablets for Blood-Brain Barrier Dysfunction in CADASIL中国研究中心 1 个：Shanghai
其他状态的试验（1 项）
- 状态未知NCT05902039MRI Study of Blood-brain Barrier Function in CADASIL中国研究中心 1 个：Beijing
中国境外的在招试验 18L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国6意大利3澳大利亚1西班牙1韩国1瑞士1中国台湾1阿联酋1德国1
CT.gov 报告命中 18 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07650110Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2
- 招募中NCT07349004Neurogenetic And Hemodynamic Of Migraine Aura And Pfo意大利
- 尚未开始招募NCT06859658Development and Validation of a Functional MRI Biomarker of Cerebral Small Vessel Dysfunction in CADASIL
- 招募中NCT06933212Effect of the Mediterranean Diet in Patients Affected by CADASIL and Cerebral Amyloid Angiopathy.意大利
- 招募中NCT06148051AusCADASIL: An Australian Cohort of CADASIL澳大利亚
- 招募中NCT06938100Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL意大利、西班牙
- 招募中NCT07497867Long-term Prospective Study of Korean CADASIL Patients韩国
- 招募中NCT05677880Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study美国
- 招募中NCT05567744Registry for CADASIL美国
- 招募中NCT05072483Natural History Study of CADASIL美国
- 招募中NCT04753970Retina is a Marker for Cerebrovascular Heath美国
- 招募中NCT05734378Prognosis of Cerebral Small Vessel Disease瑞士
- 招募中NCT05473637Taiwan Associated Genetic and Nongenetic Small Vessel Disease中国台湾
- 招募中NCT03047369The Myelin Disorders Biorepository Project美国
- 招募中NCT02795052Neurologic Stem Cell Treatment Study阿联酋、美国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）