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What is cadasil?

This section contains information about cadasil.

Cerebral means it has to do with the brain.

Autosomal
Dominant means it runs in families. It is known that each family member whose parent has the condition has a 50% chance of contracting the same condition and passing it on to their children with the same possibility whether male or female.

Arteriopathy it is a disease affecting the small blood vessels

Subcortical means deep within the brain.

Infarcts means areas of tissue that have died because of lack of oxygen reaching parts of the brain supplied by these damaged vessels.

Leucoencephalopathy means small areas of white matter occupying unusual locations in the brain.

 

 

Useful links to information on cadasil

St Georges patient guide

cadasil genetics profile (2004)

cadasil genetics profile (2006)


Statistics..(2006)

Location No. of Patients
Glasgow (UK) 60
London (UK) 200
Finland 119+
Columbia 1000+
France 150+

 

More about cadasil...Symptoms

  • Migraine with aura is very common in early stages of cadasil (often happening in 20s and 30s, but also in teenage years)
  • Transient Ischemia Attacks (TIAs) - mini strokes last a matter of hours, e.g. slurring of speech or leg weakness. Very common as the disease progresses. Usually occurs in mid 40s-50s
  • Short term memory problems, lack of initiative, depression - very common as the disease progresses.
  • Leg and arm pains, often mimicking Multiple Sclerosis
  • Dizziness and lightheadedness in early stages
  • Tinnitus (ringing in ears)

More about cadasil...What causes Cadasil ?

  • People with cadasil are born with a genetic defect, but it does not usually present itself as an illness until middle age. The defect is in the Notch 3 gene.

  • Throughout the life of a person with the genetic defect, the cells which are present in the small arteries of the body are 'mis-matching' causing unmatched 'left-over' bits of cell and other material to build up within the arteries.

  • It is thought by some scientists that this build up of material (often called GOM) may be toxic and cause the loss of muscle cells in the arteries. These muscle cells are vital for 'squeezing' blood through the small arteries into the brain. The Heart can't do all the work on it's own - the body sends signals to the muscle cells in the arteries to help force the blood through.

  • The damage to the muscle cells in the arteries means there can be reduced blood flow to the brain.

  • The muscle cells are damaged all over the body - but the only real effect is within the brain as it is so vital.


More about cadasil...How are the arteries affected ?

  • See the following diagram...