CADASIL resources

Sensory disturbances — visual, sensory, language, or motor — that precede or accompany a migraine. In CADASIL, auras may be more prolonged or atypical than usual.

An inheritance pattern in which a single copy of a disease-causing variant is enough to cause the condition. Each child of an affected parent has a 50% chance of inheritance.

A category of disease affecting the small arteries, arterioles, capillaries, and venules of the brain. CADASIL is a hereditary form of CSVD.

Epidermal growth factor-like repeat domain. NOTCH3 contains 34 such domains in its extracellular region. Pathogenic variants typically alter cysteine residues within these domains.

Fluid-Attenuated Inversion Recovery — an MRI sequence that suppresses CSF signal and highlights white matter abnormalities. The most useful sequence for visualising CADASIL changes.

Pathognomonic ultrastructural deposits in the basement membrane around vascular smooth muscle cells in CADASIL. Visible on electron microscopy of skin or other tissue.

A small (typically <15 mm) deep brain infarct caused by occlusion of a small penetrating artery. Recurrent lacunar infarcts are the clinical hallmark of CADASIL.

Damage to or disease of the white matter of the brain. In CADASIL, it appears as confluent T2/FLAIR hyperintensities.

The gene on chromosome 19p13.12 that codes for the NOTCH3 receptor — a transmembrane protein expressed by vascular smooth muscle cells. Mutations in NOTCH3 cause CADASIL.

A blood biomarker of neuroaxonal injury, increasingly studied as a candidate biomarker of CADASIL disease activity and treatment response.

Genetic testing performed in an asymptomatic person at risk of inheriting a known familial pathogenic variant. Always paired with genetic counselling.

Susceptibility-Weighted Imaging / Gradient Recalled Echo — MRI sequences sensitive to blood products. Used to identify cerebral microbleeds.

A brief episode of neurological dysfunction caused by transient focal brain ischemia, typically resolving within hours. Recurrent TIAs are common in CADASIL.

A genetic variant whose clinical significance is not yet clear. Periodic re-evaluation is appropriate as evidence accumulates.