Hereditary Cerebral Small Vessel Diseases Registry-Trial Ready Cohort

Cerebral Small Vessel Disease is a series of clinical, imaging, and pathological syndromes caused by a variety of risk factors affecting cerebral arterioles, arterioles, capillaries, and venules, accounting for 20% of stroke and 45% of dementia.

Although the incidence rate of hereditary small cerebral vascular disease is low, because of its early onset, high disability rate, and lack of effective treatment, it also brings a heavy burden to the patients and their families. Therefore, it is important to study the pathogenic gene, pathogenesis, clinical characteristics, and imaging manifestations of hereditary cerebrovascular disease to provide a theoretical basis for the treatment and prevention of hereditary cerebrovascular disease in the future.

This multi-center, prospective, continuous, registry study, runs from 2022 to 2027. The study is expected to recruit 100 subjects, according to the sample size design of the registry study.

We recruited patients with the hereditary cerebral small-vessel disease (hCSVD) intending to establish a platform for a comprehensive assessment and long-term follow-up by collecting genetics, imaging, and clinical symptoms of the primary disease and its relatives. With long-term follow-up of the development and prognosis of imaging and clinical symptoms combined with genetics, we will work on the correlation between genes and phenotype and deeply explore the pathophysiological mechanism of hCSVD, which may render the theoretical basis for the treatment and management of hCSVD.

Inclusion criteria

• All ages, male or female
• 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
• CSVD related abnormalities on brain MRI, any 1 or more of:

• White matter hyperintensities, Fazekas score3 ≥1
• ≥1 newly-occurred lacunar infarcts
• ≥1 old lacunar infarcts
• ≥3 cerebral microbleeds
• Informed consent signed

Exclusion criteria

• Diagnosis of mental disorders according to DSM-V and unable to be compliant to the research
• Patients with life expectancy less than one year due to any advanced disease, e.g., malignant tumor
• Patients unable to return for follow-up visits due to some reasons