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

Peripheral neuropathy in a case with CADASIL: a case report.
 

Author(s): Yusuke Sakiyama, Eiji Matsuura, Yoshimitsu Maki, Akiko Yoshimura, Masahiro Ando, Miwa Nomura, Kazuya Shinohara, Ryuji Saigo, Tomonori Nakamura, Akihiro Hashiguchi, Hiroshi Takashima

Journal:

 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involved in peripheral neuropathy.

Last Updated: 31 Dec 1969

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Heterozygous HTRA1 missense mutation in CADASIL-like family disease.
 

Author(s): Xiaowei Wu, Changxin Li, Jinming Mao, Ling Li, Yan Liu, Yao Hou

Journal:

 

The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to ...

Last Updated: 31 Dec 1969

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Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.
 

Author(s): Serena Nannucci, Valentina Rinnoci, Giovanni Pracucci, Andrew D MacKinnon, Francesca Pescini, Poneh Adib-Samii, Silvia Bianchi, Maria Teresa Dotti, Antonio Federico, Domenico Inzitari, Hugh S Markus, Leonardo Pantoni

Journal:

 

The frequency, clinical correlates, and risk factors of cerebral microbleeds (CMB) in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) are still poorly known. We aimed at determining the location and number of CMB and their relationship ...

Last Updated: 31 Dec 1969

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

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.
 

Author(s): Elena Muiño, Cristina Gallego-Fabrega, Natalia Cullell, Caty Carrera, Nuria Torres, Jurek Krupinski, Jaume Roquer, Joan Montaner, Israel Fernández-Cadenas

Journal:

 

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the gene, affecting the number of cysteines in the extracellular domain of the receptor, causing protein misfolding and receptor aggregation. The pathogenic ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

CADASIL Disease Discovery
 

Status: Recruiting

Condition Summary: Germline Mutation in the NOTCH 3 Gene; Cardiovascular Disease; Arterial Stiffness; Pathogenesis of CADASIL; Clinical Phenotype of CADASIL

 

Last Updated: 26 Jul 2018

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Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study
 

Status: Recruiting

Condition Summary: Alzheimer Disease; Alzheimer Dementia; Vascular Dementia; Lewy Body Disease; Lewy Body Dementia With Behavioral Disturbance (Disorder); Dementia, Mixed; Parkinson-Dementia Syndrome; Chronic Traumatic Encephalopathy; Huntington's Dementia; Wernicke Korsakoff Syndrome; Traumatic Brain Injury; Dementia, Multi-Infarct; Autism; Autism Spectrum Disorder; Autistic Behavior; Autistic Disorder, Current or Active State

 

Last Updated: 26 Oct 2018

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