Key Facts about CADASIL

• CADASIL is caused by a mutation in the NOTCH3 gene, which alters the muscular walls in the brain’s small blood vessels.
• Most individuals with CADASIL have a family history of the disorder. It is an autosomal dominant inheritance disorder, which means that one parent carries and passes on the defective gene. Both men and women are equally likely to receiveit.
• CADASIL is characterized by episodic migraines with aura and multiple, recurrent subcortical strokes progressing to dementia. Other symptoms include cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality.
• The disease has an insidious onset, which means that it does not show immediate or obvious symptoms.
• Before genetic testing became prevalent, CADASIL was often misdiagnosed as multiple sclerosis, Alzheimer’s disease, or other neurodegenerative diseases. The disorder has since been recognized worldwide with over 1000 documented cases and 600 described families.

Ongoing research is being conducted into the factors that contribute to the onset of CADASIL to better understand the disorder and develop treatment. Mental health support for both patients and their families/caregivers will be crucial as the disease progresses.