We took hereditary cerebral small vessel disease (hCSVD) patients as our main subjects, aiming to establish a platform for a comprehensive evaluation and long-term follow-up. Deeply explore the pathophysiological mechanism of hCSVD, which may render the theoretical basis for the treatment and management of hCSVD.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria:
1. All ages, male or female
2. Carriers of the pathogenic genes mutation (mutation with unknown clinical significance/ suspected pathogenic mutation/ pathogenic mutation) of hCSVD confirmed by the gene tests, including but not limited to NOTCH3, HTPA1, CTSA, GLA, TREX1, COL4A1/2, or highly-suspected hCSVD2
3. CSVD related abnormalities on brain MRI, any 1 or more of:
1. White matter hyperintensities, Fazekas score3 ≥1
2. ≥1 newly-occurred lacunar infarcts
3. ≥1 old lacunar infarcts
4. ≥3 cerebral microbleeds
4. Informed consent signed
Exclusion Criteria:
1. Diagnosis of mental disorders according to DSM-V and unable to be compliant to the research
2. Patients with life expectancy less than one year due to any advanced disease, e.g., malignant tumor
3. Patients unable to return for follow-up visits due to some reasons
Primary outcome measure(s)
The epidemiological features — at baseline Any epidemiological informations
The clinical features — 5 years Clinical symptoms and physical examination
The radiography features — at baseline Neuroimaging markers collected by MRI
A novel pathogenic gene for hereditary cerebrovascular disease in the Chinese population — at baseline Genetic testing with the blood sample
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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