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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Overview

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare inherited condition that affects blood flow to the brain, potentially leading to stroke, headache, gait disturbances, and dementia. The condition usually appears in early to middle adulthood and worsens over time.

CADASIL symptoms may differ from person to person, but common signs include:

  • Migrainous headaches
  • Multiple strokes in various parts of the brain
  • Memory decline and dementia
  • Seizures
  • Vision problems
  • Slowness of movements and imbalance while walking

CADASIL occurs due to a mutation in the NOTCH 3 gene and affects the small blood vessels of the brain, reducing blood flow and causing strokes and brain tissue damage. While CADASIL is a genetic disease, certain factors may worsen the condition or increase complications:

  • Hypertension (high blood pressure)
  • Smoking habits
  • Family history of CADASIL
  • Migraine with aura
  • Higher homocysteine levels
  • Ovarian hormones may play a role in sex-related differences in CADASIL

Doctors may use a combination of tests to confirm CADASIL:

  • MRI brain: To detect small strokes and white matter changes in the brain.
  • Genetic testing: to check for notch 3 mutation on chromosome 19. 

Currently, there is no cure for CADASIL. Treatment focuses on controlling symptoms and preventing complications:

  • Symptomatic treatment for headaches.
  • Seizure medications if seizures occur.
  • Cognitive therapy to support memory and thinking skills.
  • Physical therapy and gait training to improve walking and balance.

You should consult a doctor if you experience:

  • Recurrent or severe migraine headaches.
  • Sudden weakness, numbness, or vision loss (possible stroke symptoms).
  • Noticeable memory decline, confusion, or difficulty concentrating.
  • Balance problems, seizures, or frequent falls.

CADASIL itself cannot be prevented because it is inherited. However, complications can be reduced by:

  • Controlling blood pressure and cholesterol.
  • Treating migraines promptly.
  • Following a healthy lifestyle with balanced diet and exercise.

For diagnosis and treatment of CADASIL, consult a Neurologist (specialist in nerve and muscle disorders).

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.