Kadasil's disease: what is it, diagnosis, age

Kadasil’s disease: what is it, diagnosis, age

Cadacil is a disease of the small blood vessels of the brain of genetic origin that causes small infarcts in the brain, sometimes at the origin of stroke. Reduces life expectancy. The former candidate of “L’amour est dans le Pré” suffers from Mathieu.

cadasil disease (Predominant cerebral arteropathy with subcortical infarctions and leukoencephalopathyA genetic disease that affects the brain and shortens life expectancy. Former “Love in the Meadow” candidate, Mathieu (on the right in the photo above) He has like his father before him: “I am almost 47 years old, and in theory, The average life expectancy for Cadasil patients is 62 years. I suffer from bipolar. I have one in three risk Having a stroke from the age of 45 And a one in six chance of this happening at night.”told our Closer colleagues in July 2022, so far “I’ve never felt so well. If not for Cadassell, I would not have dared to live fully. Ironically, my illness is the source of the greatest happiness of my life.he completed.

Definition: What is Cadastil disease?

Cadasil is An inherited disease of the small blood vessels of the brain. This is due to Specific mutations in the NOTCH 3 . genewhich stands for a protein found on the surface of certain cells, more specifically Muscle cells in the walls of the small vessels of the brain, ensuring that their tone and ability to contract are preserved. “This protein builds up in the vessel wall over timeReduces its ability to expand and leads to poor irrigation Certain cerebral regions (especially deeper ones), and promotes the occurrence of small cerebral infarctions, sometimes responsible for cerebral vascular accidents (CVA). This can lead to Gradual deterioration in motor and cognitive status Subjects that can sometimes lead to a very serious disabling condition. Cadacil disease is most common in hereditary vascular diseases It affects both women and men”, which was developed by Professor Hugh Chabriet, who co-discovered Cadacil disease, with Professors Marie-Germaine Busser, Elizabeth Tournier-LaCerve and Anne Gottel, in 1996. The discovery culminated in the largest award in neuroscience, the Brain Prize in 2019.

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

What is the cause of cadaveric disease?

Cadacil disease Class III genetic mutations It is located on chromosome 19, the gene coding for the protein (it acts as a receptor on the surface of muscle cells in small vessels). This gene is involved in the formation and functioning of blood vessels. “All mechanisms in the origin of the disease are not yet known, but we now know that the mutation responsible for CADASIL can be recurrent and lead to less severe and undiagnosed forms of the disease, and will be present On 1 in 400 subjects in the general population“, Neurologist.

What are the symptoms of cadaveric disease?

Because of Lack of blood supply to the brainsubordinate pests It builds up in brain tissue over time and can cause various symptoms, which vary from person to person. Cadacil disease results in an unusually frequent occurrence of migraine attacks with aura, It is preceded by visual disturbances, or sensitivity is gradual and lasts a few minutes. but also by brain attackwhich may lead to paralysis arm, a hemiplegia or even a awkwardness of speech With the passage of time Intellectual slowdown and balance disorders. When the disease is in an advanced stage, the subject finds it difficult to move and in the final stage, he may become bedridden‘, details of the specialist.

In the presence of suggestive symptoms, a family history, MRI Detection of the presence of lesions suggestive of the diagnosis can be performed. Then the diagnosis is confirmed by a Genetic test.

What is the treatment for cadaveric disease?

At the moment, there is no There is no specific treatment To treat the disease or stop its progression. “Currently, neuroprotectants are being tested and some labs are beginning to consider using new genetic tools to modulate NOTCH3 expression.In the vase wall, Professor Hugo Chabriat points out.

What is the life expectancy in case of Cadacil disease?

the severity of the disease The function of accumulating small infarcts In the brain and the site of the mutation. The forms of the disease are very variable. Some people He does well after age 60 and others may be affected severely by age 50. External factors, such as smoking or high blood pressure, appear to exacerbate the disease. We also know that women’s development appears to be slower than men’s, possibly due to hormonal factors.

Thanks to Professor Hugh Shbriat, Coordinator of the Reference Center for Rare Vascular Diseases of the Brain and Eye (CERVCO).

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