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Related Experiment Videos

Amygdala dysfunction in men with the fragile X premutation.

David Hessl1, Susan Rivera, Kami Koldewyn

  • 1Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California-Davis, Medical Center, Sacramento, CA 95817, USA. david.hessl@ucdmc.ucdavis.edu

Brain : a Journal of Neurology
|December 15, 2006
PubMed
Summary

Men with fragile X premutation alleles show altered amygdala and social cognition brain responses. This may explain social deficits seen in fragile X-associated tremor/ataxia syndrome (FXTAS) and other carrier conditions.

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Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID-5 and Standardized Cognitive Measures.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics·2026

Area of Science:

  • Neuroscience
  • Genetics
  • Psychology

Background:

  • Fragile X premutation alleles (55-200 CGG repeats) in the FMR1 gene are linked to various disorders, including autism spectrum disorder, premature ovarian failure, and FXTAS.
  • FXTAS and other carrier conditions are hypothesized to result from a toxic gain-of-function mechanism involving elevated FMR1 mRNA.
  • Prior research suggests the amygdala may be a key brain region involved in social deficits and FXTAS risk.

Purpose of the Study:

  • To investigate amygdala and sympathetic function in adult males with the FMR1 premutation compared to controls.
  • To explore the relationship between brain activity, physiological responses, and psychological symptoms in premutation carriers.

Main Methods:

  • Functional MRI was used to measure brain responses to fearful faces.

Related Experiment Videos

  • A fear-potentiated startle paradigm assessed responses to fearful social and non-social images.
  • Skin conductance level was measured during a social interaction.

    • Main Results:

    • Men with the FMR1 premutation exhibited reduced amygdala activation and decreased activation in social cognition areas when viewing fearful faces.
    • Reduced amygdala activation correlated with self-reported psychological symptoms.
    • Premutation carriers showed diminished startle potentiation to fearful faces and reduced skin conductance response during a social encounter.

    Conclusions:

    • The findings suggest impaired amygdala and social cognition network function in FMR1 premutation carriers.
    • These neural and physiological alterations may underlie social deficits observed in premutation carriers.
    • Potential etiologies include elevated FMR1 mRNA or reduced FMR1 protein levels.