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Repeat expansion diseases.

Henry Paulson1

  • 1Department of Neurology, University of Michigan, Ann Arbor, MI, United States.

Handbook of Clinical Neurology
|January 13, 2018
PubMed
Summary
This summary is machine-generated.

Simple repeat expansions in the human genome cause over 40 diseases, primarily affecting the nervous system. These genetic disorders exhibit unique features like clinical heterogeneity and anticipation due to dynamic mutations.

Keywords:
C9ORF72anticipationexpanded repeatsmyotonic dystrophypolyglutamine diseasesrepeat instabilityspinocerebellar ataxiatrinucleotide

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Over 40 diseases stem from simple sequence repeat expansions in the human genome.
  • These disorders predominantly impact the nervous system, with trinucleotide repeats being the most frequent cause.
  • Recent discoveries include tetra-, penta-, hexa-, and dodecanucleotide repeat expansions causing common neurological conditions.

Purpose of the Study:

  • To review the distinctive features of repeat expansion diseases.
  • To discuss the diverse molecular mechanisms underlying disease pathogenesis.
  • To provide a clinical and genetic overview of key repeat expansion diseases relevant to neurologists.

Main Methods:

  • Review of existing literature on repeat expansion diseases.
  • Analysis of genetic and molecular mechanisms.
  • Clinical and genetic characterization of specific diseases.

Main Results:

  • Repeat expansion diseases display marked clinical heterogeneity and anticipation.
  • Pathogenesis mechanisms vary based on repeat characteristics (sequence, size, location) and protein translation.
  • Key diseases include myotonic dystrophy, C9ORF72-associated ALS/FTD, Huntington disease, and various ataxias and intellectual disability syndromes.

Conclusions:

  • The dynamic nature of repeat expansions leads to unique disease characteristics.
  • Understanding diverse molecular mechanisms is crucial for comprehending pathogenesis.
  • A comprehensive overview aids neurologists in diagnosing and managing these complex genetic disorders.