The unstable repeats--three evolving faces of neurological disease

Neuron. 2013 Mar 6;77(5):825-43. doi: 10.1016/j.neuron.2013.02.022.


Disorders characterized by expansion of an unstable nucleotide repeat account for a number of inherited neurological diseases. Here, we review examples of unstable repeat disorders that nicely illustrate three of the major pathogenic mechanisms associated with these diseases: loss of function typically by disrupting transcription of the mutated gene, RNA toxic gain of function, and protein toxic gain of function. In addition to providing insight into the mechanisms underlying these devastating neurological disorders, the study of these unstable microsatellite repeat disorders has provided insight into very basic aspects of neuroscience.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Bulbo-Spinal Atrophy, X-Linked / genetics
  • Fragile X Syndrome / genetics
  • Humans
  • Microsatellite Repeats / genetics*
  • Myotonic Dystrophy / genetics
  • Nervous System Diseases / genetics*
  • Spinocerebellar Ataxias / genetics
  • Trinucleotide Repeat Expansion / genetics
  • Trinucleotide Repeats