Year: 2014
Type: article
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.
Authors: Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica J Peschansky, Flora Tassone, Nicolas Charlet-Berguerand
Institutions: Inserm, Institut de génétique et de biologie moléculaire et cellulaire, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, University of Miami, University of California Davis Medical Center, University of California, Davis, Centre National de la Recherche Scientifique, Université de Strasbourg
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,990
Funders: E-Rare, Agence Nationale de la Recherche, Institut National de la Santé et de la Recherche Médicale, National Institutes of Health, National Institute of Mental Health, National Institute of Diabetes and Digestive and Kidney Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G3428639464, G6010579943, G9000054382
OpenAlex ID: W2137802284