Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

CADASIL


Other Names for this Disease
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • CASIL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function and survival of vascular smooth muscle cells and causing these cells to self-destruct. The loss of vascular smooth muscle cells in the brain causes blood vessel damage that leads to the characteristic features of CADASIL.[1]
Last updated: 10/19/2015

How is CADASIL inherited?

CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from having a new mutation in the gene, in which case it is not inherited from a parent.[1]

When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.[1]
Last updated: 10/19/2015

If a parent has CADASIL, are his or her children at risk to inherit the condition?

Every child of an individual with one NOTCH3 mutation has a 50% (1 in 2) chance of inheriting the mutation.[2]
Last updated: 6/5/2014

References
Other Names for this Disease
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • CASIL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.