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

CADASIL: Ultrastructural insights into the morphology of granular osmiophilic material.
 

Author(s): Teresa Lorenzi, Michele Ragno, Francesca Paolinelli, Clara Castellucci, Marina Scarpelli, Manrico Morroni

Journal:

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary systemic vascular disorder. Granular osmiophilic material (GOM) is its ultrastructural marker. We reviewed tissue biopsies from CADASIL patients to establish whether ...

Last Updated: 15 Mar 2017

Go To URL
Disturbed integrin expression in the vascular media in CADASIL.
 

Author(s): Dorota Dziewulska, Ewelina Nycz

Journal: Folia Neuropathol. 2016 ;54(4):375-381.

 

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an inherited angiopathy characterized by degeneration and loss of vascular smooth muscle cells (VSMCs) of still unknown pathomechanism. Many functions of VSMCs, such as adhesion, ...

Last Updated: 31 Jan 2017

Go To URL

Last Updated: 9 Nov 2016

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

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
 

Author(s): Ilaria Di Donato, Silvia Bianchi, Nicola De Stefano, Martin Dichgans, Maria Teresa Dotti, Marco Duering, Eric Jouvent, Amos D Korczyn, Saskia A J Lesnik-Oberstein, Alessandro Malandrini, Hugh S Markus, Leonardo Pantoni, Silvana Penco, Alessandra Rufa, Osman Sinanović, Dragan Stojanov, Antonio Federico

Journal:

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best known monogenic small vessel disease. Here, we review the clinical, neuroimaging, neuropathological, genetic, and therapeutic aspects based on the most ...

Last Updated: 24 Feb 2017

Go To URL
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

Go To URL
[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
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

CADASIL Disease Discovery
 

Status: Recruiting

Condition Summary: Cardiovascular Disease; Arterial Stiffness

 

Last Updated: 18 Oct 2017

Go to URL