Advances in understanding the molecular basis of FXTAS

Dolores Garcia-Arocena, Paul J Hagerman

Research output: Contribution to journalArticlepeer-review

106 Scopus citations


Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as other forms of clinical involvement in carriers without FXTAS, are thought to arise from a toxic gain of function of transcriptionally active FMR1 containing expanded CGG repeats. Although the precise mechanisms involved in rCGG toxicity are unknown, here we discuss the latest advances and models that contribute to the understanding of the molecular basis of FXTAS, and the emerging view of FXTAS as the end-stage of a process that begins in early development.

Original languageEnglish (US)
Article numberddq166
JournalHuman Molecular Genetics
Issue numberR1
StatePublished - Apr 29 2010

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology


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