Cadasil disease: symptoms, what life expectancy?

“This morning, it’s brain MRI to observe the evolution of Cadasil disease.” Suffering from Cadasil disease (VSerebral HASutosomal Dominant HASrteriopathy with Subcortical Infarcts and Leukoencephalopathy), the ex-candidate of the show “L’amour est dans le Pré” (season 15), Matthew Ceschin, gave his news on October 24, 2023 on Instagram. This disease genetic which affects the brain and reduces thelife expectancy requires regular medical monitoring:Those are less obvious days and yet, they are part of my life” he continued. THE father of Mathieu also suffers from Cadasil disease. “I’m almost 47 years old and, in theory, the life expectancy of Cadasil patients is 62 years. I suffer from bipolarity. I have a one in three risk of have a stroke from the age of 45 and one chance in six that it happens at night.testified the candidate in Closer in July 2022,

Definition: what is Cadasil disease?

Cadasil is a genetic disease that affects the small blood vessels in the brain. It is due to particular mutations of the NOTCH 3 genewhich codes for a protein located on the surface of certain cells, and more particularly of muscle cells in the wall of small vessels in the brain, which ensure the maintenance of their tone and their ability to contract. “This protein accumulates in the vessel wall over time, which rreduces their ability to expand and leads to poor irrigation of certain brain areas (especially the deeper ones), and promotes the occurrence of small cerebral infarctions, sometimes responsible for cerebrovascular accidents (CVA). This can lead to a progressive deterioration of motor and cognitive state subjects that can sometimes lead to a very serious state of disability. Cadasil disease is the most common genetic vascular diseases And affects both women and men“develops Professor Hugues Chabriat, who participated in the discovery of Cadasil disease, with Professors Marie Germaine Bousser, Elizabeth Tournier Lasserve and Anne Joutel, in 1996. This discovery was crowned by the greatest prize in neuroscience, the Brain Prize in 2019.

It is present in 1 in 400 people in France

What causes Cadasil disease?

Cadasil disease is caused by different mutations of the NOTCH 3 gene located on chromosome 19, gene coding for a protein (playing the role of receptor on the surface of muscle cells of small vessels). This gene is involved in the formation of blood vessels and their functioning. “All the mechanisms causing the disease are not yet known, but we now know that the mutation responsible for CADASIL could be common and lead to less severe and undiagnosed forms of the disease, it would be present in 1 in 400 subjects in the general population“, specifies the neurologist.

What are the symptoms of Cadasil disease?

Due to the brain irrigation deficitof the lesions accumulate in brain tissue over time and can cause different symptoms, which vary from person to person. Cadasil disease results in the unusually frequent occurrence of migraine attacks with aura, that is to say preceded by progressive vision or sensitivity disturbances lasting a few minutes. But also by Strokewhich may lead to paralysis of the arm, a hemiplegia or even one embarrassed to speak. “With time comes a intellectual slowing and balance problems. When the disease is at an advanced stage, the subject has difficulty moving and in the final stage, he may become bedridden.“, explains the specialist.

What is the life expectancy for Cadasil disease?

The severity of the disease is function of the accumulation of small infarcts in the brain and the location of the mutation. The forms of the disease vary greatly. Some people do well after age 60 and others can be seriously ill at age 50. External factors, such as smoking or high blood pressure, seem to aggravate the disease. We also know that women seem to have a slower progression than men, perhaps due to hormonal factors.

How is Cadasil disease diagnosed?

In the presence of suggestive symptoms, a family history, an MRI can be performed to detect the presence of lesions suggestive of the diagnosis. The diagnosis will then be confirmed by a genetic test.

What is the treatment for Cadasil disease?

For the moment, there is no no specific treatment allowing the disease to be cured or its progression to be stopped. “Currently, neuroprotectants are being tested and some laboratories are beginning to consider using new genetic tools to modify the expression of the NOTCH3 gene.” in the wall of the vessel, indicates Professor Hugues Chabriat.

Thanks to Professor Hugues Chabriat, coordinator of the reference center for rare vascular diseases of the brain and eye (CERVCO).