How do I know if I have Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy)?

Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy) is a rare genetic disorder that affects the blood vessels in the brain. It is caused by mutations in the NOTCH3 gene, which leads to the accumulation of a protein called NOTCH3 in the walls of small blood vessels.

The symptoms of Cadasil can vary widely from person to person, but they generally start to appear between the ages of 30 and 50. The most common symptoms include:

• Recurrent strokes or transient ischemic attacks (TIAs): These are often the first noticeable signs of Cadasil. Strokes can cause a range of symptoms depending on the area of the brain affected, such as weakness or numbness on one side of the body, difficulty speaking or understanding speech, and vision problems.


• Migraine with aura: Many individuals with Cadasil experience severe headaches accompanied by visual disturbances, such as seeing flashing lights or zigzag lines.


• Cognitive decline: Over time, individuals with Cadasil may develop problems with memory, thinking, and reasoning. This can progress to dementia in some cases.


• Depression and mood changes: Cadasil can also affect a person's mood, leading to symptoms of depression, anxiety, irritability, or apathy.


• Other neurological symptoms: Some individuals may experience balance and coordination problems, muscle weakness, or have difficulty controlling their bladder or bowels.

If you suspect you may have Cadasil or if you have a family history of the condition, it is important to consult with a healthcare professional. They will conduct a thorough evaluation, which may include:

• Medical history: Your doctor will ask about your symptoms, family history, and any previous strokes or migraines.


• Physical examination: A neurological examination will be performed to assess your reflexes, coordination, and cognitive function.


• Genetic testing: A blood sample may be taken to check for mutations in the NOTCH3 gene. However, it is important to note that not all individuals with Cadasil have detectable mutations.


• Brain imaging: Magnetic resonance imaging (MRI) scans can reveal characteristic changes in the brain, such as white matter lesions and small infarcts.

It is crucial to remember that only a healthcare professional can provide a definitive diagnosis of Cadasil. If you suspect you may have the condition, seek medical advice promptly to receive appropriate care and support.