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Article Dans Une Revue Journal of Neurodevelopmental Disorders Année : 2013

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

Résumé

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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Dates et versions

inserm-01086046 , version 1 (21-11-2014)

Identifiants

  • HAL Id : inserm-01086046 , version 1
  • PUBMED : 25161746

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Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica J Peschansky, Flora Tassone, et al.. The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.. Journal of Neurodevelopmental Disorders, 2013, pp.23. ⟨inserm-01086046⟩
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