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

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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

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The Stennis Foundation

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

Last Updated: 30 Apr 2015

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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

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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

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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

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General Resources

CADASIL France

CADASIL France Association are our sister site

Updated 29 Apr 2014

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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 179 free, full-text research articles on human participants. First 3 results:

The comparisons of phenotype and genotype between CADASIL and CADASIL-like patients and population-specific evaluation of CADASIL scale in China.
 

Author(s): Dan He, Daiqi Chen, Xuefei Li, Zheng Hu, Zhiyuan Yu, Wei Wang, Xiang Luo

Journal: J Headache Pain. 2016 ;17():55.

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder caused by mutations in the NOTCH3 gene. Although CADASIL scale is a widely used tool to screen clinically suspected CADASIL patients, ...

Last Updated: 21 May 2016

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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

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Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations.
 

Author(s): Natalie M Kofler, Henar Cuervo, Minji K Uh, Aino Murtomäki, Jan Kitajewski

Journal:

 

Pericytes regulate vessel stability and pericyte dysfunction contributes to retinopathies, stroke, and cancer. Here we define Notch as a key regulator of pericyte function during angiogenesis. In Notch1(+/-); Notch3(-/-) mice, combined deficiency of Notch1 and Notch3 altered pericyte ...

Last Updated: 13 Nov 2015

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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 11 free, full-text review articles on human participants. First 3 results:

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) - literature review apropos an autopsy case.
 

Author(s): Wojciech Wesołowski, Dorota Dziewulska, Malwina Koziarska, Ewa Iżycka-Świeszewska

Journal: Pol J Pathol. 2015 Sep;66(3):323-9.

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a non-atherosclerotic, non-amyloid cerebral angiopathy involving small arteries and arterioles. This entity presents vascular changes in the form of smooth muscle degeneration with ...

Last Updated: 1 Dec 2015

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[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

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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

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Symptoms, Diagnosis, and Treatment

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

CADASIL Disease Discovery
 

Status: Recruiting

Condition Summary: Cardiovascular Disease; Arterial Stiffness

 

Last Updated: 21 Sep 2016

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