Yes, CADASIL is a real, though rare, genetic disorder. It's a type of vascular dementia.
CADASIL stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Let's break that down:
- Cerebral: Relating to the brain.
- Arteriopathy: A disease of the arteries.
- Autosomal Dominant: Inherited from one parent, meaning if you inherit the faulty gene, you will likely develop CADASIL.
- Subcortical Infarcts: Small strokes occurring beneath the cortex (outer layer) of the brain.
- Leukoencephalopathy: Damage to the white matter of the brain.
Essentially, CADASIL is caused by a mutation in the NOTCH3 gene, which affects the smooth muscle cells of small blood vessels, especially in the brain. This leads to thickening of the vessel walls, restricting blood flow and causing small strokes (infarcts) and damage to the white matter (leukoencephalopathy).
Key characteristics of CADASIL include:
- Migraines with aura
- Strokes (often occurring at a relatively young age, between 40 and 60)
- Cognitive decline and dementia
- Mood disturbances (depression, anxiety)
- Seizures
Diagnosis typically involves:
- MRI of the brain: To identify characteristic white matter changes and infarcts.
- Genetic testing: To confirm the NOTCH3 mutation.
- Skin biopsy: Although less common now that genetic testing is available, a biopsy can show characteristic deposits in the blood vessels.
Currently, there is no cure for CADASIL. Treatment focuses on managing symptoms and preventing further strokes. This may include:
- Managing blood pressure
- Treating migraines
- Providing supportive care for cognitive and mood changes
- Lifestyle modifications such as smoking cessation
In summary, CADASIL is a real and serious genetic vascular disorder that affects the brain, leading to a range of neurological symptoms.
