CADASIL

 

CADASIL is a rare genetic brain disease. It results in stroke and dementia. The disease is caused by a mutation of the gene NOTCH3 on chromosome 19. As a result, this gene produces a wrong protein NOTCH3. The function of this protein is to maintain healthy blood vessel walls. The mutated protein accumulates in the smooth muscle cells of the vascular wall.
As a result, these muscle cells die. The problem occurs in the whole body, but especially in the brains. Blood flow to the brains is disrupted and as a result, serious problems arise, such as stroke and dementia. In the other organs no problems arise because their blood vessels are generally mild affected. The deviations are microscopically visible, but do not lead to problems, to the extent known. The disease manifests itself on average from the 45th to 50th year. Children of a person who has the disease have 50% chance to get the disease as well.


Possible symptoms

• Disorders of thinking ability and memory
• Transient ischemic attacks and / or strokes
• Migraine
• Depression

Diagnosis

An MRI showed abnormalities in the white matter. These can, however, also be caused by some other condition, for example MS (see also the Journal of Neurology)
DNA analysis reveals a deviation of the NOTCH3 gene
Pathological anatomical investigation into the walls of small arteries

The disease is related to Congenital CAA and HCHWA-D.

The Dutch Leiden University Medical Center has a special outpatient clinic for people with hereditary cerebral angiopathies.

 

More information:
Cambridge Books online

National Institute of Neurological Disorders and Stroke