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Vol 47, N° 2-3  - juin 2001
p. 154
Doi : JNG-06-2001-47-2-3-0028-3770-101019-ART95
Épidémiologie clinique

Les facteurs génétiques associés aux malformations artério-veineuses cérébrales

Ronald F. Moussa [1], John H. Wong [2], Issam A. Awad [2]
[1] Service de Neurochirurgie, Hôpital Hôtel-Dieu, Achrafieh Beyrouth, Liban.
[2] Department of Neurosurgery, Yale University School of Medicine, 333 Cedar Street, TMP 404, New Haven, CT 06520, USA.

Genetic factors related to intracranial arteriovenous malformations

Genetic studies are interesting not only in the diagnosis and screening of new cases within a family harboring a particular disease, but also in understanding the underlying genetic and molecular factors related to that disease.

Such studies revealed 3 categories of cerebral arteriovenous malformations in relationship to possible genetic factors. The first one concerns cerebral arteriovenous malformations in relationship to inherited diseases where a genetic support is clearly identified. Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) represents the most classical picture. The second category corresponds to familial cases of cerebral arteriovenous malformations were several members and relatives of the same family harboring the pathology without clear demonstration of any genetic basis. The third category includes cerebral arteriovenous malformations described in association with neurocutaneous disorders issued from maldevelopment events. Sturge-Weber disease and Wyburn-Mason syndrome best illustrate this category. A review of these categories will help in a better understanding of some genetic issues related to cerebral arteriovenous malformations.


Les études génétiques permettent de répartir les patients porteurs de malformations artério-veineuses cérébrales (MAVc) en trois catégories : 1) ceux chez qui on peut rattacher la malformation à une maladie héréditaire dont la base génétique est bien établie, 2) ceux chez qui on retrouve plusieurs membres de la même famille porteurs de MAVc sans pouvoir toutefois rattacher celle-ci à un gène identifiable, 3) ceux appartenant à un groupe affilié aux phacomatoses, maladies congénitales en rapport avec un trouble de l'embryogenèse, tels la maladie de Sturge-Weber ou le syndrome de Wyburn-Mason. L'ensemble de ces études est non seulement intéressant pour comprendre le développement des malformations vasculaires, mais surtout pour soulever le problème du dépistage et de la prise en charge des patients asymptomatiques.

Mots clés : malformations artério-veineuses cérébrales. , génétique.

Keywords: cerebral arteriovenous malformations. , genetics.

© 2001 Elsevier Masson SAS. Tous droits réservés.
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