Scribd Logo
Hochladen

Willkommen bei Scribd!

  • Opening Speech by Marie Germaine BousserCadasil 20 Years Later, What Next ?

    Hochgeladen von

    Fondation Singer-Polignac
    24 Ansichten1 Seite
    In 1993 in Paris, our clinical and genetic teams, headed respectively by MG Bousser and E. Tournier-Lasserve, identified a new disease affecting a French family. The extensive study of 57 adults members of this family led to the localization of the responsible gene on chromosome 19 and to the description of the main characteristics of the disease : autosomal dominant small artery disease of the brain with subcortical infarcts and white matter involvement, hence the proposed acronym : CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy). In less than 3 years, the study of 33 french families led to the identification of the responsible gene : Notch 3, so far known in the drosophila, but not in humans. A new basic science research field was thus opened to understand how mutations of this gene could induce cerebral infarcts in humans. More than 1000 CADASIL families have now been identified worldwide, and over 1000 scientific articles have been published on this topic. To celebrate the 20th anniversary of the disease description, a workshop will take place on September 19-20 2013 at Fondation Singer Polignac in Paris. The best specialists of CADASIL, of other small artery diseases of the brain, of Notch 3 and of neurovascular coupling will participate, aiming at developing new research projects and opening therapeutic avenues.

    Originaltitel

    Opening speech by Marie Germaine BousserCadasil 20 years later, what next ?

    Copyright

    © Attribution Non-Commercial (BY-NC)

    Stufen Sie dieses Dokument als nützlich ein?

    Sind diese Inhalte unangemessen?

    Dieses Dokument melden
    In 1993 in Paris, our clinical and genetic teams, headed respectively by MG Bousser and E. Tournier-Lasserve, identified a new disease affecting a French family. The extensive study of 57 adults members of this family led to the localization of the responsible gene on chromosome 19 and to the description of the main characteristics of the disease : autosomal dominant small artery disease of the brain with subcortical infarcts and white matter involvement, hence the proposed acronym : CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy). In less than 3 years, the study of 33 french families led to the identification of the responsible gene : Notch 3, so far known in the drosophila, but not in humans. A new basic science research field was thus opened to understand how mutations of this gene could induce cerebral infarcts in humans. More than 1000 CADASIL families have now been identified worldwide, and over 1000 scientific articles have been published on this topic. To celebrate the 20th anniversary of the disease description, a workshop will take place on September 19-20 2013 at Fondation Singer Polignac in Paris. The best specialists of CADASIL, of other small artery diseases of the brain, of Notch 3 and of neurovascular coupling will participate, aiming at developing new research projects and opening therapeutic avenues.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Markieren Sie unangemessene Inhalte
    24 Ansichten1 Seite

    Opening Speech by Marie Germaine BousserCadasil 20 Years Later, What Next ?

    Hochgeladen von

    Fondation Singer-Polignac
    In 1993 in Paris, our clinical and genetic teams, headed respectively by MG Bousser and E. Tournier-Lasserve, identified a new disease affecting a French family. The extensive study of 57 adults members of this family led to the localization of the responsible gene on chromosome 19 and to the description of the main characteristics of the disease : autosomal dominant small artery disease of the brain with subcortical infarcts and white matter involvement, hence the proposed acronym : CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy). In less than 3 years, the study of 33 french families led to the identification of the responsible gene : Notch 3, so far known in the drosophila, but not in humans. A new basic science research field was thus opened to understand how mutations of this gene could induce cerebral infarcts in humans. More than 1000 CADASIL families have now been identified worldwide, and over 1000 scientific articles have been published on this topic. To celebrate the 20th anniversary of the disease description, a workshop will take place on September 19-20 2013 at Fondation Singer Polignac in Paris. The best specialists of CADASIL, of other small artery diseases of the brain, of Notch 3 and of neurovascular coupling will participate, aiming at developing new research projects and opening therapeutic avenues.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Markieren Sie unangemessene Inhalte
    von 1

    2nd international CADASIL workshop, Paris, 19-20 sept 2013

    CADASIL, 20 years later, what next ?


    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy maps on chromosome 19q12
    (Tournier-Lasserve, Joutel, Melki, Weissenberg, Lathrop, Chabriat, Mas, Cabanis, Baudrimont, Maciazek, Bach, Bousser. Nature Genetics 1993; 3:2 56-9)

    1976: First patient


    1987: his 2 children 1988 - 92: 56 family members

    1991: 1st report (Stroke 1991)


    1993: 1st pathological report (Stroke 1993) =>1993: CADASIL Chr 19 (Nat Genet 1993) 1993-96: 33 french families =>1996: Notch 3 (Joutel et al, Nature)
    MGB 20133

    Das könnte Ihnen auch gefallen