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 615L2
2024/08 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。
- 2026-08Pericyte K<sub>ATP</sub> channel hyperactivity redistributes cortical blood flow in a CADASIL mouse model
- 2026-07病例报告A NOTCH3 p.Gly1105Cys variant in CADASIL: clinical characterization and an updated overview of exon 20 variants
- 2026-07综述Animal models of ischemic cerebral small vessel disease: A narrative review of pathological phenotypes, challenges, and future directions
- 2026-07Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease
- 2026-07Heterogenous microglial reactivity contrasts with stable vascular transcriptional programs in mouse models of Alzheimer's, CADASIL, and Traumatic Brain Injury
- 2026-07Multimodal characterization of age-dependent neurovascular phenotypes in Notch3<sup>R170C</sup> CADASIL mice by ultra-high-field MRI and histological analyses
- 2026-07综述The vascular contribution to dementia: World Stroke Organization scientific statement
- 2026-07Unexpected widespread amyloid PET positivity in a patient with CADASIL
- 2026-07Diagnostic Value and Clinical Significance of Temporopolar White-Matter Hyperintensities in CADASIL and Sporadic Small-Vessel Disease
- 2026-07Rethinking Temporopolar White-Matter Hyperintensity in CADASIL: A Context-Dependent Biomarker
- 2026-06Atypical phenotype of CADASIL in the c.451 C > G (Q151E) mutation of the NOTCH3 gene
- 2026-06Incidental DWI-Positive Lesions in 2 Cohorts of CAA and CADASIL: Prevalence, Distribution, and Associations With Clinical Variables
- 2026-06开放获取ALIGNED Network for rare cerebrovascular diseases: methodology and preliminary results
- 2026-06Cortical correlates of apathy in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy with two different pathogenic mutations in the NOTCH3 gene
- 2026-06Deep Learning-Guided Retinal Vascular Morphometric Quantification in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Mouse Models
- 2026-06开放获取Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy Syndrome
- 2026-06开放获取Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i>-Related Disorder
- 2026-06综述The role of inflammation in cerebral small vessel disease and vascular cognitive impairment, and therapeutic implications
- 2026-06开放获取Disrupting Notch signalling by a small molecule inhibiting dihydroorotate dehydrogenase activity
- 2026-06系统综述病例报告开放获取Inflammatory CADASIL: the cross-link between CADASIL and multiple sclerosis: a report of two cases and systematic review of the literature
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 19L2
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4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 19 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NCT06935578RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)意大利
- 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
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）