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

Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica J. Peschansky, Flora Tassone, Nicolas Charlet-Berguerand

Research output: Contribution to journalReview article

22 Scopus citations

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.

Original languageEnglish (US)
Article number23
JournalJournal of Neurodevelopmental Disorders
Volume6
Issue number1
DOIs
StatePublished - Jul 30 2014

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Cognitive Neuroscience
  • Pediatrics, Perinatology, and Child Health

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