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J Neurodev Disord. 2014;6(1):23. doi: 10.1186/1866-1955-6-23. Epub 2014 Jul 30.

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

Author information

1
Department of Translational Medicine, IGBMC, INSERM U964 Illkirch, France.
2
Section on Gene Structure and Disease, NIDDK, National Institutes of Health, Bethesda MD 20892, USA.
3
Department of Psychiatry and Behavioral Sciences and Center for Therapeutic Innovation, Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami FL 33136, USA.
4
Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento CA 95817, USA ; MIND Institute, University of California Davis Medical Center, Sacramento CA 95817, USA.
5
Department of Translational Medicine, IGBMC, INSERM U964 Illkirch, France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR7104, INSERM U964, University of Strasbourg, 1 rue Laurent Fries, Illkirch F-67404, France.

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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