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The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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Premutation Females with preFXTAS.

Valentina Liani1,2, Carme Torrents1,3, Elisa Rolleri1,4

  • 1Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.

International Journal of Molecular Sciences
|March 27, 2025
PubMed
Summary
This summary is machine-generated.

Fragile-X-associated tremor/ataxia syndrome (FXTAS) presents differently in women. Neuropsychiatric symptoms are more common, suggesting a need for new diagnostic criteria for this FMR1 gene premutation disorder.

Keywords:
FMR1 geneFXTASneurological problemsneuropsychiatric problemspremutation

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Area of Science:

  • Neurogenetics
  • Neurology
  • Genetics

Background:

  • Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder linked to the FMR1 gene premutation (55-200 CGG repeats).
  • FXTAS typically affects males around age 60 with motor and cognitive symptoms.
  • Female FXTAS presentation and progression differ significantly from males.

Observation:

  • Ten women with FMR1 premutation were studied across two medical centers.
  • All participants exhibited neuropsychiatric symptoms and subtle neurological signs.
  • Motor symptoms like tremors and ataxia were absent or reduced; neuropsychiatric symptoms were prevalent.

Findings:

  • Women with FMR1 premutation show a distinct clinical profile compared to men.
  • Neurocognitive impairment was minimal, with some executive dysfunction and memory complaints.
  • The term 'preFXTAS' or 'prodromic FXTAS' is proposed for early-stage presentations in women.

Implications:

  • This study highlights the need for revised diagnostic criteria for FXTAS in females.
  • Development of specific biomarkers and assessment tools for women is crucial.
  • Recognizing distinct female presentations can improve early diagnosis and management of FXTAS.