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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • CASIL
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
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Your Question

My mother and her identical twin sister have CADASIL. While some of my cousins have the condition, I do not. Am I at risk to inherit this condition? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes CADASIL?

CADASIL is caused by mutations in the NOTCH3 gene. The NOTCH3 gene provides instructions for producing the Notch3 receptor protein, which is important for the normal function and survival of vascular smooth muscle cells. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the cell. These signals then turn on (activate) particular genes within vascular smooth muscle cells.[1]

NOTCH3 gene mutations lead to the production of an abnormal Notch3 receptor protein that affects the function and survival of vascular smooth muscle cells. Disruption of Notch3 functioning can lead to the self-destruction (apoptosis) of these cells.[1]

Last updated: 6/14/2011

How is CADASIL inherited?

CADASIL is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A few rare cases may result from new mutations in the NOTCH3 gene. These cases occur in people with no history of the disorder in their family.[1]
Last updated: 6/14/2011

If my mother has CADASIL, am I at risk to inherit the condition?

Every child of an individual with a NOTCH3 mutation has a 50% chance of inheriting the mutation.[2] This means that you have a 50/50 chance of inheriting CADASIL.
Last updated: 6/14/2011

References