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Association X fragile Europe

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Association X fragile Europe

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    1. Association X fragile Europe

    2. FXTAS was initialy described by Hagerman et al in 2001. The major features of FXTAS are clinical with a late onset intention tremor and cerebellar ataxia as well as radiological with hyperintense lesions in the MCP. Other clinical features include Parkinsonism and cognitive decline and on the radiological level, WM hyperintensities in the cerebral hemispheres and mild to severe global atrophyFXTAS was initialy described by Hagerman et al in 2001. The major features of FXTAS are clinical with a late onset intention tremor and cerebellar ataxia as well as radiological with hyperintense lesions in the MCP. Other clinical features include Parkinsonism and cognitive decline and on the radiological level, WM hyperintensities in the cerebral hemispheres and mild to severe global atrophy

    3. tudes Familiales Le syndrome FXTAS a t initialement dcrit au travers dtudes familiales. Un biais dans la taille des allles est li la vitesse dexpansion du triplet CGG. Taille moyenne des allles chez les grands parents: ~ 80 rpts

    13. Critres de screening: Ataxie crbelleuse dbut tardif > 50 ans. Tremblement intentionnel > 50 ans. Hypersignal en T2 : pdoncules crbelleux moyen. P.O.F. Histoire familiale compatible avec un retard mental li lX Dclin rapide de la toxicit des rptitions CGG en de de 70 rptitions. Bonne nouvelle pour les porteurs dallles de petite taille. Les allles de petite taille sont possiblement associs: une symptomatologie diffrente? une pntrance plus faible des symptmes ?

    14. Acknowledgments CHU de Nantes, Service de Gntique Jean-Marie Rival, MD Albert David, MD Stphane Bzieau, MD Michelle Boceno, MD M.I.N.D. Institute, University of California Davis Medical Center. Randi J Hagerman, MD Department of Public Health Sciences, University of California Davis Laurel Beckett, PhD Yueju Li, M.S. Department of Neurology, University of Colorado Health Sciences Center. Maureen Leehey, MD Deborah Hall, MD Department of Biological Chemistry, University of California, Davis, School of Medicine. Flora Tassone, PHD Paul J Hagerman, MD, PHD Lisa Becker

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