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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective.

Daniele Orsucci1, Lucia Lorenzetti2, Fulvia Baldinotti3

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Journal of Clinical Medicine
|February 25, 2022
PubMed
Summary

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder. This study revises the FXTAS phenotype in women, highlighting its broad symptom spectrum and atypical presentations.

Keywords:
FXSFXTASFragile Xataxiaepisodic ataxiasparoxysmal movement disorderstrinucleotide repeat diseases

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder.
  • It is caused by a premutation (55-200 CGG repeats) in the FMR1 gene.
  • FXTAS is a common single-gene cause of late-onset ataxia and tremor, with potentially complex presentations in women.

Purpose of the Study:

  • To revise the phenotype of FXTAS specifically in women.
  • To present an atypical case of FXTAS in an Italian woman with paroxysmal episodes.
  • To emphasize the need for sex-specific studies of the fragile X premutation.

Main Methods:

  • Case report of an atypical FXTAS presentation in a female patient.
  • Literature review and revision of the FXTAS phenotype in women.
  • Analysis of sex-specific differences in FXTAS symptomatology.

Main Results:

  • FXTAS in women exhibits a broad spectrum of symptoms, varying in severity and age of onset.
  • Atypical presentations, including acute cerebellar and/or brainstem dysfunction, can occur in female FXTAS patients.
  • The symptomatic spectrum differs between female and male FXTAS.

Conclusions:

  • FXTAS presents differently in women compared to men, necessitating separate research approaches.
  • Understanding the molecular basis of FXTAS's polymorphic features is crucial for developing targeted therapies.
  • Further research into sex-specific FXTAS manifestations will improve diagnosis and treatment.