| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1 (CADASIL) |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
7.7
|
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1 (CADASIL)
|
| (G;G)
|
0
|
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, migraine with aura, mood disturbances/psychiatric disorders, and apathy.
- CADASIL is predominantly caused by certain mutations in the NOTCH3 gene.
- Evaluation of all patients should include: neurologic evaluation, psychological evaluation of cognitive disorders, brain MRI, cervical and transcranial echodoppler, resting ECG, Holter blood pressure, biochemical evaluation.
- Patients should maintain a balanced diet aimed at controlling possible factors such as vascular risk associated with the disease.
- Psychological counseling should be offered to patients and their families in order to give emotional support.
- Angiography, thrombolytic therapy, smoking and anticoagulants are contraindicated in CADASIL and should be avoided.
The full ClinGen Actionability report about cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
