The first Chinese-language CADASIL resource hub
Providing accurate information, research tracking, and community support for CADASIL patients and families
Understanding this hereditary cerebrovascular disease
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is the most common hereditary cerebral small vessel disease, caused by mutations in the NOTCH3 gene on chromosome 19. It primarily affects the small blood vessels in the brain, leading to recurrent strokes, cognitive decline, and other neurological symptoms.
Autosomal dominant inheritance β if one parent carries the mutation, each child has a 50% chance of inheriting it. Over 280 different pathogenic mutations have been identified.
Migraine with aura (age 20-40), recurrent lacunar strokes (40-50), progressive cognitive impairment, mood disorders (depression, apathy), and gait disturbances.
Gold standard: NOTCH3 genetic testing. Supportive: Brain MRI showing temporal pole and external capsule white matter hyperintensities. Skin biopsy for GOM deposits.
No cure yet, but strict blood pressure control (<130/80), healthy lifestyle, avoiding smoking, and regular MRI monitoring can slow progression significantly.
Avoid:
Recommended:
Key therapeutic developments in CADASIL
NCVC Japan (Dr. Ihara) β vascular protective agent. AMCAD Phase II trial completed with good safety profile. Currently the most advanced CADASIL-specific therapy.
University of Michigan (Dr. Michael Wang) β Disulfiram/Auranofin shown to restore NOTCH3 protein conformation. New small molecule candidates identified in 2026.
Zhao X et al. β PDE5 inhibitors restore nitric oxide signaling in CADASIL models. Already-approved drugs with potential for repurposing.
Karolinska Institute β Antisense oligonucleotide approach to silence mutant NOTCH3. Estimated 5-8 years to clinical application.
Leading researchers and clinicians worldwide
Prof. Hugues Chabriat
Lariboisière Hospital, Paris (CERVCO)
World's largest CADASIL cohort Β· T3CAD trial PI
Prof. Martin Dichgans
LMU Munich, Germany
Cerebral small vessel disease genetics
Prof. Saskia Lesnik Oberstein
Leiden University Medical Center, Netherlands
NOTCH3 genetics & clinical phenotyping
VASCERN (European Reference Network)
Multi-center collaboration across EU
Patient education & clinical guidelines
Dr. Masafumi Ihara
NCVC, Osaka, Japan
HM101 developer Β· Only dedicated CADASIL drug program globally
Prof. Cheng Xin (η¨εΏ»)
Huashan Hospital, Fudan University, Shanghai
Leading CADASIL clinic in China
Prof. Yuan Yun (θ’δΊ)
Peking University First Hospital, Beijing
Pioneer of CADASIL research in China
Dr. Michael Wang
University of Michigan
NOTCH3 small molecule inhibitors Β· Disulfiram/Auranofin
Dr. Osama Bhatt Harraz
University of Vermont (UVM)
Piezo1 channel research in CADASIL
NIH/NINDS
National Institutes of Health, Bethesda
CADASIL Disease Discovery Study (Dr. Elisa Ferrante)
Light of Hope (εΈζδΉε )
China Β· WeChat patient community (hundreds of members)
First Chinese CADASIL patient group
Authoritative sources and organizations
Leading international CADASIL patient organization. Webinars, research updates, support network.
U.S. National Institute of Neurological Disorders and Stroke β comprehensive disease information.
Search for active CADASIL clinical trials worldwide. Find opportunities to participate.
National Organization for Rare Disorders β CADASIL disease page and patient resources.
National Cerebral and Cardiovascular Center β home of HM101 CADASIL drug development.
Latest CADASIL research publications and scientific literature.
We are a group of CADASIL patient family members in China. We created this platform because we know the fear and helplessness of receiving a rare disease diagnosis with almost no information available in Chinese.
Our WeChat patient community has grown to hundreds of members, making it the largest CADASIL patient group in China. We track research, translate key findings, and support each other.
Contact: 364394057@qq.com