Cadasil disease: what is it, diagnosis, life expectancy.

Cadasil disease: what is it, diagnosis, life expectancy.

Cadasil is a disease of the small vessels of the brain of genetic origin that causes the appearance of small infarcts in the brain, sometimes at the origin of a cerebrovascular accident. Reduces life expectancy. Former candidate for the show “L’amour est dans le Pré”, Mathieu suffers from it.

Cadasil disease (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a genetic disease that affects the brain and shortens life expectancy. Former candidate of the show “Love is in the meadow”, Mathieu (on the right in the photo above) has it, just like his father before him: “I am 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 having a stroke since the age of 45 And a one in six chance of it happening at night.”told our Closer colleagues in July 2022, However “I have never felt so good. Without Cadasil, I would never have dared to live so fully. Paradoxically, my illness is the source of the greatest happiness in my life.He concluded.

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 genethat codes for a protein located on the surface of certain cells, and more specifically of muscle cells in the wall of the small vessels of the brain, which ensure the maintenance of its tone and its ability to contract. “This protein accumulates in the vessel wall over time, which rreduces its ability to expand and leads to poor irrigation of certain brain areas (especially the deepest), and favors the appearance of small cerebral infarcts, sometimes responsible for cerebral vascular accidents (CVA). This can lead to a progressive decline in motor and cognitive status subjects that can sometimes lead to a state of very serious disability. Cadasil disease is the most common of the genetic vascular diseases and affects both women and men.“, develops Pr. Hugues Chabriat, who participated in the discovery of Cadasil disease, with Pr. Marie Germaine Bousser, Elizabeth Tournier Lasserve and Anne Joutel, in 1996. This discovery was crowned by the highest award in neuroscience, the Brain Prize in 2019.

It would be present in 1 subject out of 400 in the general population

What is the cause of Cadasil disease?

Cadasil disease is caused by different mutations of the NOTCH 3 gene located on chromosome 19, gene that codes for a protein (which acts as a receptor on the surface of muscle cells in small vessels). This gene is involved in the formation of blood vessels and their function. “Not all the mechanisms at the origin of the disease are yet known, but we now know that the mutation responsible for CADASIL could be frequent and give rise 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 lack of blood supply to the brainsince injuries they build up in brain tissue over time and can cause different symptoms, which vary from person to person. Cadasil disease results in the unusually frequent appearance of migraine attacks with aura, that is, preceded by vision disorders, or progressive sensitivity and lasting a few minutes. But also for racewhat can lead to paralysis arm, a hemiplegia or even a embarrassed to speak In time comes a Intellectual slowing and balance disorders. When the disease is in an advanced stage, the subject has difficulty moving and in the final stage, he may become bedridden.“, details the specialist.

In the presence of suggestive symptoms, 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 now, there is no no specific treatment to cure the disease or stop its progression. “Neuroprotectants are currently being tested and some laboratories are beginning to consider the use of new genetic tools to modify the expression of the NOTCH3 gene.“On the wall of the vessel, indicates Professor Hugues Chabriat.

What is the life expectancy in case of 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 are highly variable. Some people they do well after age 60 and others may be severely affected in their 50s. External factors, such as smoking or high blood pressure, seem to aggravate the disease. We also know that women seem to have a slower evolution than men, perhaps due to hormonal factors.

Thanks to Professor Hugues Chabriat, coordinator of the Reference Center for Rare Vascular Diseases of the Brain and Eyes (CERVCO).

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