What tests are done?

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.

Please let the foundation know if you have any questions concerning testing - info@cadasilfoundation.org

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