The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

Chantal Sellier 1 Karen Usdin 2 Chiara Pastori 3 Veronica Peschansky 3 Flora Tassone 4, 5 Nicolas Charlet-Berguerand 1, *
* Auteur correspondant
1 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
2 NIDDK - Laboratory of Biological Modeling
3 Department of Psychatry and Behavioral Sciences and Center for Therapeutic Innovation
4 The M.I.N.D. Institute and Department of Neurology, University of California at Davis
5 Department of Biochemistry and Molecular Medecine
Abstract : Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, and cognitive decline. FXTAS is caused by the presence of a long CGG repeat tract in the 5' UTR of the FMR1 gene. In contrast to Fragile X syndrome, in which the FMR1 gene harbors over 200 CGG repeats but is transcriptionally silent, the clinical features of FXTAS arise from a toxic gain of function of the elevated levels of FMR1 transcript containing the long CGG tract. However, how this RNA leads to neuronal cell dysfunction is unknown. Here, we discuss the latest advances in the current understanding of the possible molecular basis of FXTAS.
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Journal of Neurodevelopmental Disorders, BioMed Central, 2013, pp.23
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Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica Peschansky, Flora Tassone, et al.. The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.. Journal of Neurodevelopmental Disorders, BioMed Central, 2013, pp.23. 〈inserm-01086046〉

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