A brief history of triplet repeat diseases

Methods Mol Biol. 2013;1010:3-17. doi: 10.1007/978-1-62703-411-1_1.


Instability of repetitive DNA sequences within the genome is associated with a number of human diseases. The expansion of trinucleotide repeats is recognized as a major cause of neurological and neuromuscular diseases, and progress in understanding the mutations over the last 20 years has been substantial. Here we provide a brief summary of progress with an emphasis on technical advances at different stages.

Publication types

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

MeSH terms

  • Animals
  • Chromatin / genetics
  • Chromatin / metabolism
  • Humans
  • Neurodegenerative Diseases / genetics*
  • Proteins / metabolism
  • RNA / genetics
  • RNA / metabolism
  • Trinucleotide Repeats*


  • Chromatin
  • Proteins
  • RNA