Cadasil disease: what is it, diagnosis, lifespan


Cadasil disease: what is it, diagnosis, lifespan
Written by madishthestylebar

Cadasil is a disease of the small vessels of the brain of genetic origin which causes the occurrence of small infarctions in the brain, sometimes at the origin of stroke. It reduces life expectancy. A former candidate for the show “L’amour est dans le Pré”, Mathieu is suffering 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. A former candidate for the show “Love is in the meadow”, Mathieu (on the right in the photo above) has it, just like his father before him: “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 having a stroke from the age of 45 and a one in six chance of it happening at night”he told our colleagues from Closer in July 2022, Yet “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 of my life.he concluded.

Definition: what is Cadasil disease?

Cadasil is a genetic disease that affects the small blood vessels of 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 the small vessels of 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 cerebral areas (especially the deepest ones), and promotes the occurrence of small cerebral infarctions, sometimes responsible for cerebrovascular 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 diseases of the vessels 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 greatest prize 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 NOTCH 3 gene mutations located on chromosome 19, gene coding for a protein (acting as a receptor on the surface of muscle cells in small vessels). This gene is involved in the formation of blood vessels and their functioning. “All the mechanisms at the origin of the disease are not yet known but we now know that the mutation responsible for CADASIL could be frequent 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 lack of blood supply to the brainof the lesions 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 occurrence of migraine attacks with aura, that is to say preceded by vision disorders, or progressive sensitivity and lasting a few minutes. But also by strokewhich may lead to paralysis arm, a hemiplegia or even a embarrassment to speak. With time comes a intellectual slowing and balance disorders. When the disease is at an advanced stage, the subject has difficulty moving around and in the final stage, he may become bedridden“, details the specialist.

In the presence of suggestive symptoms, a family history, an MRI may 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. “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.

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 very variable. Some people do well after age 60 and others may be severely affected by 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 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 eye (CERVCO).

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