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About this illness - Discovering this illness

Discovering this illness

The aim of this article is to give general information about this illness.  The other headings on this website will give more detailed information.

What is CADASIL?

CADASIL is a genetic illness affecting the small blood vessels of the brain.  It leads to a poor irrigation of certain areas of the brain which causes symptoms that vary from person to person.   Its name derives from “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy”.

CADASIL affects just as many men as women.  Every child of a carrier of the mutated gene has a 50% chance of inheriting it.

What causes this illness?

This illness is caused by an anomaly (mutation) of one single gene, called Notch3, found on chromosome 19.This gene plays a part in the formation of the blood vessels and the way they work.  Its mutation has an impact on the movement of blood inside the brain.

What are the outward signs of the illness?

The age of the onset of symptoms, the evolution of the illness, as well as the type and the seriousness of the symptoms vary from one person to another, even if they belong to the same family.

The most common symptoms appear in adulthood.  Not all the sufferers display the full range of symptoms described below.  The symptoms come on very progressively.

  • Attacks of migraine with aura, that is, preceded by visual disturbances
  • Strokes and their consequences: problems with balance, walking, speech, vision, hearing...
  • Cognitive problems (difficulties with concentration and with executive functions, problems with memory, apathy...) and problems of mood (depression...)
  • Epilepsy
  • With time, the patient slows down physically and intellectually

To find out more, go to the website of CERVCO, or of the Haute Autorité de Santé (HAS).

Who should you go to?

In the presence of some of these symptoms, the General Practioner will refer the patient to a neurologist.

To establish a diagnosis, the neurologist will initially arrange an MRI scan of the brain.  Depending on the resulting images (presence of characteristic lesions in the white matter) a questionnaire about the possible existence of similar cases in the same family will lead the neurologist towards the hypothesis of CADASIL.  When there are no other known cases in the family, a genetic test for CADASIL will be done after the elimination of other hypotheses.  French neurologists can get in touch with the CERVCO (Centre de Reference) at Lariboisière Hospital in Paris for advice.

Are there any treatments?

At present, there is no treatment either to cure or to prevent the evolution of the illness.  A healthy lifestyle and the treatment of individual symptoms as they appear can improve the quality of life of sufferers.  Smoking is an established risk factor in this illness.

Is there ongoing research into CADASIL?

In France there is much ongoing research, both clinical research led by the team at the centre of reference (CERVCO), and also genetic research led by Dr. Joutel’s team.  Other teams are working on CADASIL in other countries.  Thanks to the american Leducq Foundation, an international network has been set up.

Creation date : 22/11/2014 @ 18:04
Last update : 30/12/2015 @ 06:43
Category : About this illness
Page read 16521 times

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