Cerebral small vessel diseases (CSVD) are inherited disorders affecting the small arteries, arterioles, capillaries, and venules of the brain, resulting in progressive vascular injury and impaired cerebral blood flow. Clinical manifestations may include early-onset ischemic stroke, intracerebral hemorrhage, migraine, cognitive decline, white matter abnormalities, and vascular dementia.

This panel includes genes associated with the major hereditary cerebral small vessel diseases, including CADASIL, CARASIL, COL4A1/COL4A2-related cerebral angiopathy, retinal vasculopathy with cerebral leukoencephalopathy, and other inherited cerebral vasculopathies. Representative genes include NOTCH3, HTRA1, COL4A1, COL4A2, TREX1, COLGALT1, and FOXC1.

This panel is recommended for patients with early-onset stroke, unexplained white matter disease, recurrent intracerebral hemorrhage, migraine with characteristic MRI findings, or a family history suggestive of hereditary cerebral small vessel disease.