What tests are done: A MRI alone cannot detect CADASIL a skin
biopsy detecting abnormality in the small arteries of the skin with a particular deposit
which can be seen in electron microscopy or blood test identifying mutation
identification by DNA sequence a being used now. MRI: A magnetic resonance
scan (MRI) is usually performed and shows characteristic appearances with abnormalities in
the deeper parts of the brain or white matter. This is a safe scan that involves no
radiation but some people find it rather claustrophobic. This scan may be repeated to
determine whether the disease is progressing. Blood
Tests:
Detects mutations in the Notch3 gene. Skin
Biopsy:
CADASIL results in characteristic changes in the blood vessels. A very small skin
biopsy is easily performed under local anesthetic. It is important this is processed in a
special way allowing it to be looked at under high magnification using an electron
microscope. Under this magnification, one can frequently see abnormal collections of
material, which we call GOM (granular osmiophilic material) as shown by the arrows in the
figures. If these GOM are present we can be almost certain that the individual does have
CADASIL. However, the skin biopsy can be normal.
