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Related Experiment Videos

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

M A Leehey1, E Berry-Kravis, C G Goetz

  • 1Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO 80262, USA. maureen.leehey@uchsc.edu

Neurology
|December 7, 2007
PubMed
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CGG repeat size in FMR1 premutation carriers correlates with motor dysfunction severity. This association is strongest in men for tremor, ataxia, and parkinsonism, and in women for ataxia.

Area of Science:

  • Neurogenetics
  • Neurology
  • Geriatrics

Background:

  • Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting FMR1 premutation carriers.
  • Core motor symptoms include tremor, ataxia, and parkinsonism.
  • FXTAS is underrecognized, particularly in aging populations.

Purpose of the Study:

  • To determine if CGG repeat length in the FMR1 gene correlates with the severity and type of motor dysfunction in premutation carriers.
  • To investigate this correlation separately in men and women.

Main Methods:

  • Structured videotaping and blinded motor assessments by movement disorder neurologists.
  • CGG repeat length analysis, including X-activation ratio for women.
  • Comparison of carriers (men and women) with age-matched noncarriers.

Related Experiment Videos

Main Results:

  • Male carriers showed significantly worse motor scores (tremor, ataxia) than male noncarriers.
  • Increasing CGG repeat length correlated with greater motor impairment in men.
  • In women, increasing CGG repeat length correlated with greater ataxia when considering the X-activation ratio.

Conclusions:

  • CGG repeat size is significantly associated with motor impairment in FMR1 premutation carriers.
  • The association is most pronounced in men, affecting tremor, ataxia, and parkinsonism.
  • A significant correlation between premutation status and ataxia was observed in women, a novel finding.