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

 

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

Skin biopsy-based diagnosis of CADASIL with atypical MRI findings.
 

Author(s): Yoichiro Nishida, Akihiko Ueda, Yukio Ando, Tadashi Ichikawa

Journal: Intern. Med.. 2015 ;54(5):537-8.

 

Last Updated: 11 Mar 2015

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Characteristics of CADASIL in Chinese mainland patients.
 

Author(s): Qing-Che Tan, Jia-Tang Zhang, Rong-Tai Cui, Quan-Gang Xu, Xu-Sheng Huang, Sheng-Yuan Yu

Journal: Neurol India. ;62(3):257-61.

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has been reported in many geographical regions. However, relatively few reports about CADASIL in Chinese were reported.

Last Updated: 18 Jul 2014

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Loss of venous integrity in cerebral small vessel disease: a 7-T MRI study in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
 

Author(s): Fran├žois De Guio, Alexandre Vignaud, Stefan Ropele, Marco Duering, Edouard Duchesnay, Hugues Chabriat, Eric Jouvent

Journal: Stroke. 2014 Jul;45(7):2124-6.

 

Previous pathological studies in humans or in animal models have shown alterations of small arteries and veins within white matter lesions in cerebral small vessel disease. We aimed to evaluate in vivo, the integrity of the cerebral venous network using high-resolution MRI both within ...

Last Updated: 24 Jun 2014

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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 7 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

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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

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CADASIL: experimental insights from animal models.
 

Author(s): Cenk Ayata

Journal: Stroke. 2010 Oct;41(10 Suppl):S129-34.

 

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) syndrome is the most common monogenic inherited form of small vessel disease, characterized by frequent migraine attacks with aura, recurrent strokes and progressive white matter degeneration. ...

Last Updated: 29 Sep 2010

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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

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Efficacy of Pain Treatment on Depression in Patients With Dementia
 

Status: Recruiting

Condition Summary: Depression; Pain; Dementia

 

Last Updated: 16 Oct 2014

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