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What is CADASIL?
CADASIL is a genetic disease affecting the small blood vessels of the brain. It leads to poor irrigation of certain areas of the brain which causes symptoms that vary greatly from one person to another. Its name means “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy”.
It affects both men and women equally. Each child of a person carrying the mutated gene has a 50% risk of inheriting it.
It is important for you to know that there is nothing that you or your family did that caused you to inherit the CADASIL gene. We have no control over the genes we inherit, just as we have no control over the genes we pass on to our own children.
What causes CADASIL?
It is caused by an anomaly (mutation) of one single gene, called Notch3, found on chromosome 19.This gene plays a part in the formation of the blood vessels and the way they work. Its mutation has an impact on the movement of blood inside the brain.
The age of the onset of symptoms, the evolution of the illness, as well as the type and the seriousness of the symptoms vary from one person to another, even if they belong to the same family.
The most common symptoms appear in adulthood. Not all the sufferers display the full range of symptoms described below. The symptoms come on very progressively.
Attacks of migraine with aura, that is, preceded by visual disturbances
Strokes and their consequences: problems with balance, walking, speech, vision, hearing…
Cognitive problems (difficulties with concentration and with executive functions, problems with memory, apathy…) and problems of mood (depression…)
Epilepsy
With time, the patient slows down physically and intellectually
Are there any treatments?
Currently, there is no treatment that can cure or prevent the progression of the disease.
A healthy lifestyle and the treatment of symptoms as they appear can improve the quality of life of patients.
Smoking is a proven aggravating factor for the disease
ENROLL TODAY
2023 CADASIL study
https://cadasil-consortium.org/
Please sign the registry, we need to have everyone with CADASIL documented for research and statistical purposes. Make your number count!
By signing the CADASIL registry you will be contacted when other studies are announced. Personal information is kept strictly confidential
| CONSIDER DONATING We are a 501(c)(3) non-profit organization, recognized by the IRS as eligible to receive tax-deductible donations. We would not exist without your support and are here for you. No matter what the size of your donation, you will impact the lives of many. Thank you so much for your continued support as “Together We Have Hope!” When we became a nonprofit in 2005, The Board of Directors decided to have no membership dues, no paid staff and run solely on donations and we are devoted to promoting awareness/education, support, and research for this rare genetic disease for CADASIL patients, families, friends and healthcare providers. Click here for the form to donate by mail, a memorial gift, or in honor of someone. If you donate through Pay Pal you don’t need to have a PayPal account in order to donate. Use your bankcard, credit card or your checking account, even overseas transactions are accepted. All transactions are secure and none of your personal financial information is shared with us. Click here! |
Information Videos
INFO: ICD-10-CM I67.850 is a new diagnosis code for CADASIL that became effective on October 1, 2018..