Unstable trinucleotide repeats and the diagnosis of neurodegenerative disease

Hum Pathol. 1994 Jun;25(6):598-601. doi: 10.1016/0046-8177(94)90226-7.


Human genes containing unstable triplet repeats are associated with several neuropsychiatric diseases. These diseases all show a marked variation in clinical symptoms and genetic anticipation. The molecular understanding of these diseases provides the diagnostic laboratory with the capability to test directly whether an individual's DNA contains the disease-causing mutation, either as a confirmation of a clinical diagnosis or presymptomatically.

Publication types

  • Review

MeSH terms

  • Bulbar Palsy, Progressive / genetics
  • DNA / chemistry*
  • Fragile X Syndrome / genetics
  • Humans
  • Huntington Disease / genetics
  • Muscular Atrophy, Spinal / genetics
  • Myotonic Dystrophy / genetics
  • Nervous System Diseases / genetics*
  • Oligonucleotides / chemistry
  • Repetitive Sequences, Nucleic Acid / physiology*
  • Spinocerebellar Degenerations / genetics


  • Oligonucleotides
  • DNA