Fragile X-associated disorders: a clinical overview
Anne Gallagher1, Brian Hallahan
1Department of Psychiatry, Clinical Science Institute, National University of Ireland Galway, Galway, Ireland.
Journal of Neurology
|July 13, 2011
Summary
Fragile X Syndrome (FraX), the leading inherited cause of learning disability, results from CGG repeat expansions. This review covers FraX
Area of Science:
- Genetics and Neurology
Background:
- Fragile X Syndrome (FraX) is the most common inherited cause of learning disability globally.
- It stems from an unstable trinucleotide repeat expansion (cytosine guanine guanine - CGG) on the X chromosome.
Purpose of the Study:
- To provide a comprehensive review of Fragile X Syndrome.
- To detail the clinical profile, aetiology, epidemiology, neuropathology, neuroimaging, and management strategies for both full mutation and premutation carriers.
Main Methods:
- This is a review article.
- It synthesizes existing literature on Fragile X Syndrome.
Main Results:
- Individuals with full mutation have >200 CGG repeats; premutation carriers have 55-200 repeats.
- Both full mutation and premutation are associated with a broad range of physical, behavioral, cognitive, psychiatric, and medical issues.
Conclusions:
- Fragile X Syndrome presents a wide spectrum of clinical manifestations.
- Understanding its multifaceted aspects is crucial for effective management.
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