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

作者：Sellier Chantal; Usdin Karen; Pastori Chiara; Peschansky Veronica J; Tassone Flora; Charlet Berguerand Nicolas^*

来源：Journal of Neurodevelopmental Disorders, 2014, 6(1): 23.

DOI：10.1186/1866-1955-6-23

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.

• 出版日期2014-7-30
• 单位NIH