0000000001056429

AUTHOR

A. Fromont

Les accidents vasculaires cérébraux : ce qui a changé au début du xxie siècle

Resume Introduction Les accidents vasculaires cerebraux (AVC) faisaient partie, il y a 20 ans, des pathologies medicales mobilisant peu de ressources techniques et humaines car atteignant les sujets âges et ne disposant pas de therapeutiques efficaces. Cette pathologie etait alors grevee d’une mortalite precoce elevee au-dela de 25 %. C’etait l’epoque de l’attitude contemplative face a un AVC. Le developpement de l’epidemiologie de populations des AVC a permis de demontrer qu’ils n’etaient pas l’apanage du sujet âge et que 25 % d’entre eux survenaient avant 60 ans et en periode d’activite professionnelle. L’arrivee de la fibrinolyse et la mise en place des unites neurovasculaires ont transf…

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Favorable evolution post hematologous stem cell transplant after primary central nervous system lymphoma in a multiple sclerosis under natalizumab

International audience

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P09.084C - Strong interest of exome sequencing in progressive neurological diseases

International audience; Introduction: Neurogenetics represents a vast, complex, ever changing discipline whose diagnosis currently remains challenging, since clinical and/or imaging features frequently appear very unspecific, especially early in the evolution (cerebellar ataxia, tremor, dystonia...). In molecular diagnosis, current strategies usually include sequential investigations that may lead to long, tedious, expensive and disappointing patients care. Exome sequencing (ES) appears a promising approach for neurogenetics, apart from when nucleotide motif expansion disorders can be suspected. Materials and Methods: We recruited 48 individuals without cognitive development impairment, ref…

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