CADASIL

Common Name(s)

CADASIL, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CADASIL" for support, advocacy or research.

CADASIL Association

The mission of the CADASIL Association is to raise awareness of CADASIL, ensuring it will be universally recognized and understood by the medical community, enabling patients to be correctly diagnosed. We are dedicated to helping patients, families, caregivers, and other supporters touched by CADASIL. We aim to unite patients and the medical community toward the common goal of treatments and, ultimately a cure for this rare genetic disease, by promoting Communication, Advocacy, Research, and Education.

Last Updated: 5 May 2014

View Details
CADASIL Together We Have Hope

CADASIL Together We Have Hope is devoted to promoting awareness, education, support, and research for CADASIL patients, families, friends, and health care providers. We are dedicated to enhancing the established communication network among families as well as identifying sources of medical care and social services. We foster advocacy and open communication among all stakeholders as we work collaboratively to find a treatment or cure for CADASIL a rare genetic disease.

Last Updated: 29 Apr 2014

View Details
The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CADASIL" for support, advocacy or research.

CADASIL Association

The mission of the CADASIL Association is to raise awareness of CADASIL, ensuring it will be universally recognized and understood by the medical community, enabling patients to be correctly diagnosed. We are dedicated to helping patients, families, caregivers, and other supporters touched by CADASIL. We aim to unite patients and the medical community toward the common goal of treatments and, ultimately a cure for this rare genetic disease, by promoting Communication, Advocacy, Research, and Education.

http://cadasilassociation.org

Last Updated: 5 May 2014

View Details
CADASIL Together We Have Hope

CADASIL Together We Have Hope is devoted to promoting awareness, education, support, and research for CADASIL patients, families, friends, and health care providers. We are dedicated to enhancing the established communication network among families as well as identifying sources of medical care and social services. We foster advocacy and open communication among all stakeholders as we work collaboratively to find a treatment or cure for CADASIL a rare genetic disease.

http://cadasilfoundation.org

Last Updated: 29 Apr 2014

View Details
The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

http://www.stennisfoundation.org

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

CADASIL France

CADASIL France Association are our sister site

Updated 29 Apr 2014

Go To URL
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "CADASIL" returned 171 free, full-text research articles on human participants. First 3 results:

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
 

Author(s): Julie W Rutten, Roselin R Klever, Ingrid M Hegeman, Dana S Poole, Hans G Dauwerse, Ludo A M Broos, Cor Breukel, Annemieke M Aartsma-Rus, J Sjef Verbeek, Louise van der Weerd, Sjoerd G van Duinen, Arn M J M van den Maagdenberg, Saskia A J Lesnik Oberstein

Journal:

 

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, leading to toxic NOTCH3 protein accumulation in the small- to medium sized arterioles. The accumulation ...

Last Updated: 30 Dec 2015

Go To URL
Injuries of neural tracts in a patient with CADASIL: a diffusion tensor imaging study.
 

Author(s): Sung Ho Jang, You Sung Seo

Journal:

 

We report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), who showed injuries of the neural tracts, which was demonstrated by diffusion tensor tractography (DTT).

Last Updated: 29 Sep 2015

Go To URL
Longitudinally extensive transverse myelopathy in a patient with CADASIL.
 

Author(s): Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira

Journal: Arq Neuropsiquiatr. 2015 Sep;73(9):812.

 

Last Updated: 10 Sep 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "CADASIL" returned 9 free, full-text review articles on human participants. First 3 results:

[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].
 

Author(s): Yun-Chung Chen, Cheng-Tsung Hsiao, Bing-Wen Soong, Yi-Chung Lee

Journal: Acta Neurol Taiwan. 2014 Jun;23(2):64-74.

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most prevalent monogenic cerebral small vessel diseases caused by a mutation in the NOTCH3 gene. The clinical manifestations of CADASIL range from single or multiple lacunar ...

Last Updated: 3 Jun 2015

Go To URL
Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
 

Author(s): Dragan Stojanov, Slobodan Vojinovic, Aleksandra Aracki-Trenkic, Aleksandar Tasic, Daniela Benedeto-Stojanov, Srdjan Ljubisavljevic, Sasa Vujnovic

Journal:

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an autosomal dominant vascular disorder. Diagnosis and follow-up in patients with CADASIL are based mainly on magnetic resonance imaging (MRI). MRI shows white matter hyperintensities ...

Last Updated: 1 Mar 2015

Go To URL
Rapid improvement of a complex migrainous episode with sodium valproate in a patient with CADASIL.
 

Author(s): Mika H Martikainen, Susanna Roine

Journal: J Headache Pain. 2012 Jan;13(1):95-7.

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease of small arteries caused by mutations in the Notch3 gene. Complex migrainous episodes, such as acute confusional migraine, status migrainosus with persisting ...

Last Updated: 9 Jan 2012

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety Study of Dabigatran in CADASIL
 

Status: Recruiting

Condition Summary: CADASIL

 

Last Updated: 10 Feb 2014

Go to URL
CADASIL Disease Discovery
 

Status: Not yet recruiting

Condition Summary: Cardiovascular Disease; Arterial Stiffness

 

Last Updated: 20 Jul 2016

Go to URL