Cadasil disease: what it is, diagnosis, life expectancy – Le Journal des Femmes

Cadasil disease: what it is, diagnosis, life expectancy – Le Journal des Femmes

Cadasil is a disease of small cerebral vessels of genetic origin that causes the appearance of small infarcts in the brain, sometimes at the beginning of a stroke. Mathieu, a former candidate for the show “L’amour est dans le Pré”, suffers from it.

Cadasil’s disease (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a genetic disease that affects the brain. Former candidate for the program “Love is in the meadow”, Mathieu (pictured above right) has it, as did 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 have a stroke from the age of 45 and a one in six chance of it happening at night”told our Closer colleagues in July 2022, Still “I have never felt so good. I would never have dared to live so fully without Cadasil. Paradoxically, my illness is the source of the greatest happiness in my life.concluded.

Definition: what is Cadasil disease?

Cadasil is a a genetic disease that affects the small blood vessels in the brain. It is because specific mutations of the NOTCH 3 genewhich encodes a protein localized on the surface of certain cells, and more specifically on muscle cells in the wall of the small blood 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, whichit reduces their ability to expand and leads to poor irrigation some brain areas (especially the deeper ones) and supports the formation of small brain infarcts, sometimes responsible for cerebrovascular events (stroke). This can lead to progressive decline in motor and cognitive status objects that can sometimes lead to a state of very serious disability. Cadasil’s disease is the most common of genetic diseases vessels and affects both women and men“, develops Pr Hugues Chabriat, who participated in the discovery of Cadasil’s disease, with Pr Marie Germaine Bousser, Elizabeth Tournier Lasserve and Anne Joutel in 1996. This discovery was crowned with the biggest prize in neuroscience, the Brain prize in 2019.

It would be present in 1 in 400 subjects in the general population

What causes Cadasil’s disease?

Cadasil’s disease is caused by various NOTCH 3 gene mutations placed on chromosome 19, a gene encoding 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 of 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, would be present in 1 in 400 subjects in the general population“, he clarifies neurologist.

What are the symptoms of Cadasil disease?

Due insufficient blood supply to the brainof lesion builds up in brain tissue over time and can cause a variety of symptoms that vary from person to person. Cadasil’s disease results in an unusually frequent occurrence seizures migraine with aura, that is, they are preceded by visual disturbances or progressive sensitivity and last for several minutes. But also that strokewhich can lead to paralysis arm, a hemiplegia or even a shame to speak. With time comes a intellectual retardation and balance disorders. When the disease is in an advanced stage, the subject has difficulty moving and may be bedridden in the final stage“, the specialist describes in detail.

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

What is the treatment for Cadasil?

It doesn’t exist yet no specific treatment cure the disease or stop its progression. “Neuroprotectants are currently being tested, and some labs are beginning to consider using new genetic tools to modify the expression of the NOTCH3 gene.“in the vessel wall, Professor Hugues Chabriat points out.”

What is life expectancy with Cadasil?

The severity of the disease is function of accumulation of small infarcts in the brain and the location of the mutation. The forms of the disease are very variable. Some people they do well after age 60, and others may be severely affected by age 50. External factors such as smoking orhigh blood pressure, appear to worsen the disease. We also know that females seem to develop more slowly than males, possibly due to hormonal factors.

Thanks to Professor Hugues Chabriat, Coordinator of the Cerebro-Ocular Rare Vascular Reference Center (CERVCO).

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