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- 2001 Annual meeting - Conference and discussion
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November 27, 2001- Annual Meeting of members
Medical discussion

A member: what can be done when the first symptoms appear?
Prof E. TOURNIER-LASSERVE: as a first step, you should visit your family general practitioner who will determine if he has to address you to your neurologist, if necessary. Some neurological symptoms are not compulsory linked to CADASIL In the case of a cerebral stroke, an MRI exam has to be performed.

A member: What do you think about thrombolisis and anticoagulant treatments?
Prof. E. TOURNIER-LASSERVE: They are not appropriate as they induce the risk of a cerebral blood haemorrhage. The stroke itself can already be accompanied by very little bleedings.
Prof. M.G. BOUSSER: there is no emergency treatment that can be prescribed immediately after a stroke. You also have to remember that CADASIL is not the only source of neurological symptoms.

A member: What about arteriography?
Dr. H. CHABRIAT: in an emergency, this exam is likely to be performed by the hospital. But there are some risks, as it requires an injection of iodine in the artery. It is not advisable.
A member: people having the CADASIL disease should always have a card in their wallet with indications on their illness and the treatments and exams that have to be avoided.
Dr H. CHABRIAT: vasoconstricting medicines (issued from rye ergot or from Tripoptan) are also dangerous. Products aiming at unblocking blood vessels are inadequate as they increase the risk of a haemorrhage.
Prof. E. TOURNIER-LASSERVE: keep in mind that they are other diseases that affect small blood vessels. Having neurological signs doesn't compulsorily mean that you suffer from CADASIL. The diagnosis of this illness requires a whole process of analysis.

A member: is it forbidden to take Aspirin or Plavix?
Prof. M.G. BOUSSER: No. A 1978 study has shown that aspirin can decrease by 25% the risk of a second stroke after a TIA (transitory ischemic attack: stroke provoked by a jam in arteries, in opposition with strokes generated by blood punctures). Aspirin and anti-platelet medicines provide some benefit. Some research works in that field have been conducted in cases of other diseases with thickening of blood vessel walls, but not yet on CADASIL patients.
As for anticoagulant pharmaceutical products, they increase the risk of a haemorrhage. A recent American study shows that they are not more efficient than aspirin. Strokes caused by CADASIL are more frequently ischemic than hemorrhagic.
Prof. E.TOURNIER-LASSERVE: The first step in our Research activity was the identification of the gene implied in the disease. We then worked on the protein produced by the muted gene. This gave as consequently some information for diagnosis, knowledge on the mechanisms of the disease and orientations for defining the characteristics of the adequate treatments we have to look for. A third step is to understand the role plaid by this protein when there is no mutation in the gene.
We have produced laboratory animals having the genetic mutation in order to study when and how the brain lesions appear, and how they progress while generating symptoms. We also cultivate cells in tubes in order to get quicker tools.
The Notch 3 gene plays a role in muscular cells where it determines the vessels' constriction.
In Dr. JOUTEL's laboratory, an animal model has been obtained (transgenic mice): it has the Notch 3 gene mutation that was identified in several families. At an age of about fifteen months, these mice had the same brain lesions as in the human form of the disease. The purposes of the present studies concern the following questions: when do these lesions appear? How do they develop? What are their consequences? Which products can slow down their evolution and impact?
We will try to get some mice that will present the disease earlier to accelerate our observations.
At the present time, the most important is to discover the normal role of the protein and Researchers have now some serious hypothesis.
We also have other Research activities on other cerebral arteriopathy diseases that have similarities with Cadasil. The affected families could join the ACF France association.

A member: Could genetic therapy be considered? sore back muscles
Prof. E. TOURNIER-LASSERVE: there is little chance that we can consider developing genetic therapy. The elaboration of pharmaceutical solutions will much more easily be achieved. If we find a medical cure, people identified with having the muted gene could get it on a preventive basis before onset of the disease. This would be a sufficient protection. We now have serious hypotheses for finding pre-symptomatic treatments.

A member: do you advise some particular life habits?
Prof. M-G. BOUSSER: it is recommended to avoid smoking, drink alcohol in reasonable quantities (however, two glasses of wine daily for a man, and one glass for a woman, can even have a protecting role) and have regular physical activities.

A member: do you think it is not advisable to take contraceptive pills?
Prof. M-G. BOUSSER: It is known they have a negative impact on blood circulation. But, pills having a very low concentration are not dangerous if you don't smoke and do not suffer from diabetes. If the woman has CADASIL, it is not unreasonable to counsel avoiding taking contraceptive pills, but we don't have a definite position on the matter.
Dr. H. CHABRIAT: there is no thrombosis - like symptoms in the illness.
Prof. M-G. BOUSSER: Pills without oestrogen (progestative pills) have never been identified for increasing the vascular risks.

A member: and what can be the consequences of menopause treatments?
Prof. M-G. BOUSSER: it is difficult to determine whether hormones can have a protecting role against cerebral strokes. There has been a study on substitutive hormonotherapy. But its results were not significant enough as the panel of women concerned was not representative of all social contexts. Before the age of fifty, women have less strokes, in average, than men: there are 50% less myocardium or cerebral infarcts, but no serious research has measured the impact of menopause on these accidents (it should be conducted on 10 000 women for getting serious results).
A positive role of menopause treatments against a second accident has been observed on women who have already suffered from a heart attack. We cannot formally say that hormonotherapy has more pros than cons for a woman having CADASIL. The treatment's choice has to be established on other criterions: it is not advised in families where there are many cases of cancers but is counselled for persons who are depressed or suffer from hot flushes.

A member: what do you think about menopause treatment with plants?
Prof. M-G.BOUSSER: There is no significant study and no serious results in the field of hormonotherapy using plants.

A member: does pregnancy introduce some risks? And it is possible to identify Cadasil on children?
Prof. M-G. BOUSSER: There is no increase in the risk of a stroke during pregnancy. But the month following the birth is more risky with a higher probability of phlebitis and strokes. But pregnancy doesn't favour the apparition of Cadasil.

Prof. E. TOURNIER-LASSERVE: The genetic mutation exists right from the conception. At the very stage of an embryo, the presence of the muted gene could be identified. But it raises many questions: is it good to know it, and when, whereas there is still no treatment?
The research work on animals is important to better know the impact of pregnancy.
Prof. M-G. BOUSSER: our opinions are based on similar illnesses, by analogy, but there never has been any particular study on pregnancy and Cadasil.

A member: do you have in the Lariboisière hospital information on all persons identified in France or only on patients for whom doctor H. CHABRIAT cares?
Dr. H. CHABRIAT: we do not have a centralized follow-up of all French patients. We have presented a project aiming at subjecting all patients all over France to the same cerebral MRI exams and cares. But we didn't get the necessary subsidies. We will request some funds in the coming months from other sources and we are looking for financial means for larger scale studies.
Prof. E. TOURNIER-LASSERVE: associations have a major role to play for diffusing the knowledge on the illness and get some funds.
Prof. H. CHABRIAT: as far as follow-up surveys are concerned, we collaborate with the German Research team in Munich, which has significant financial means. We would like to develop the same follow-up work in both countries.

A member: how many Cadasil patients have been identified?
Prof. H. CHABRIAT: about 50 to 60 in the Paris area. On the whole French territory, we do not have precise figures, and some individuals have probably not been diagnosed. There are neither any statistics on a worldwide scale.
Prof. E. TOURNIER-LASSERVE: in our genetic laboratory, we receive yearly about 200 to 300 blood samples, among which only about 20% are diagnosed with a Cadasil mutation in the Notch3 gene.

A member: In addition to a web site, it would be useful to issue a scientific bulletin for medical staff with information on the progress of Research works.
Prof. M-G. BOUSSER: We have major difficulties in obtaining funds for Research. In Germany, there are 5 times more doctors than in France. We are not numerous enough.

A member: does the German team get interesting results?
Dr. H. CHABRIAT: they have interesting results. Their evaluation method of the disease is based on a gravity scale of the handicap and its evolution.

And, in France, do you have some new results?
Dr. H. CHABRIAT: if we want to organize a therapeutical test en France, we have to choose some evaluation criteria. Frequency of strokes? Migraines? The more visible and logical sign would be the handicap. But for getting significant results, this measure would require the follow-up of one thousand patients during 2 or 3 years: it would be too long and it is also impossible to identify so many patients and to have enough money to conduct this study.
We have considered another criterion: MRI examination of water movements within the brain (diffusion imagery). We know that the water mobility increases when the axons (prolongation of nervous cells in the brain) and myelin sheathes are damaged as a consequence of the lack in blood circulation within the brain's white matter.
During one year, we have performed a study on 25 patients in the Orsay hospital, using the diffusion MRI technique. 14 of them have undergone a second examination and 7 had three. Even when these persons had no new symptoms and no stroke over a 34 months period, we could observe a modification in the water mobility curve, at each time they had the MRI examination.
This technique enables us therefore to measure the modifications within the brain before they generate any aggravation in symptoms.
In order to adjust this method and be able to use it for measuring the results of some therapeutical tests, it would be necessary to perform a test on a sample of only 200 persons, among which the half would be affected by Cadasil.
We have submitted our project to the French branch of a major international laboratory but the funds have been refused to us. Our project concerned a test with existing neuro-protecting medicines derived from statines (products used against cholesterol): they could limit the consequences of strokes and protect the brain by slowing the disease's evolution.
The cost of this study is evaluated to 5 to 10 millions of euros.
Prof. M-G. BOUSSER: we negotiated by insisting on the fact that 30% of strokes are related to illnesses affecting small brain arteries, not only to CADASIL, which could open a broad market for pharmaceutical industries. We will go on presenting our project to other companies.
Dr. H. CHABRIAT: Doctor VAHEDI will perform a study on the vascular reactivity with the use of echo-Doppler measures. 40 patients and 20 control subjects will be appealed to in the first months of 2002. Theses exams require a whole day: MRI exam, neurophysiological examination and echo-Doppler.
Prof. M-G. BOUSSER: our aim with the first tests of treatments is to determine if we can slow down the process and even to check if a reversion, possibly only a partial one, is feasible.

A member: a psychological help is necessary for ill persons and their circle.
Prof. M-G. BOUSSER: it is important to give information and that all para-medical professions are implied in helping: psychologists, physiotherapists and speech therapists.

A member: what do you think about narcotics?
Prof. M-G. BOUSSER: this is a major source of stroke in young populations. All drugs are of course inadvisable. ♦

Written by Chantal NEAU

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