Trinucleotide repeat disorders

Harry T. Orr, Huda Y. Zoghbi

Research output: Contribution to journalReview articlepeer-review

1150 Scopus citations


The discovery that expansion of unstable repeats can cause a variety of neurological disorders has changed the landscape of disease-oriented research for several forms of mental retardation, Huntington disease, inherited ataxias, and muscular dystrophy. The dynamic nature of these mutations provided an explanation for the variable phenotype expressivity within a family. Beyond diagnosis and genetic counseling, the benefits from studying these disorders have been noted in both neurobiology and cell biology. Examples include insight about the role of translational control in synaptic plasticity, the role of RNA processing in the integrity of muscle and neuronal function, the importance of Fe-S-containing enzymes for cellular energy, and the dramatic effects of altering protein conformations on neuronal function and survival. It is exciting that within a span of 15 years, pathogenesis studies of this class of disorders are beginning to reveal pathways that are potential therapeutic targets.

Original languageEnglish (US)
Pages (from-to)575-621
Number of pages47
JournalAnnual review of neuroscience
StatePublished - 2007


  • Ataxia
  • Ataxin
  • Fragile X syndrome
  • Frataxin
  • Huntington disease
  • Mental retardation
  • Myotonic dystrophy
  • Polyglutamine
  • Spinal bulbar muscular atrophy
  • Unstable repeats


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