Regrettably, due to unforeseen circumstances, we have temporarily closed. Our journey began in 2005 when information about CADASIL was scarce. Although our website will remain as a reference for patients and their loved ones, we also suggest checking https://curecadasil.org/ for additional support. Thank you for understanding, and remember, you’re not alone. Dec 2023
A heartfelt thanks to Dean and his family for hosting our website. Our partnership, which began in 2010, has been invaluable. Dean is Founder/President of the MLD Foundation.
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…)
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
Please go to https://curecadasil.org/donate-to-cure-cadasil/
INFO: ICD-10-CM I67.850 is a new diagnosis code for CADASIL that became effective on October 1, 2018..