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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. Études Familiales Le syndrome FXTAS a été initialement décrit au travers d’études familiales. Un biais dans la taille des allèles est lié à la vitesse d’expansion du triplet CGG. Taille moyenne des allèles chez les grands parents: ~ 80 rpts

    13. Critères de screening: Ataxie cérébelleuse à début tardif > 50 ans. Tremblement intentionnel > 50 ans. Hypersignal en T2 : pédoncules cérébelleux moyen. P.O.F. Histoire familiale compatible avec un retard mental lié à l’X Déclin rapide de la toxicité des répétitions CGG en deçà de 70 répétitions. Bonne nouvelle pour les porteurs d’allèles de petite taille. Les allèles de petite taille sont possiblement associés: À une symptomatologie différente? À une pénétrance plus faible des symptômes ?

    14. Acknowledgments CHU de Nantes, Service de Génétique Jean-Marie Rival, MD Albert David, MD Stéphane Bézieau, 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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