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Journal of Neurology
Published in: Journal of Neurology 3/2012

01-03-2012 | Review

Fragile X-associated disorders: a clinical overview

Authors: Anne Gallagher, Brian Hallahan

Published in: Journal of Neurology | Issue 3/2012

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Abstract

Fragile X Syndrome (FraX) is the most common inherited cause of learning disability worldwide. FraX is an X-linked neuro-developmental disorder involving an unstable trinucleotide repeat expansion of cytosine guanine guanine (CGG). Individuals with the full mutation of FraX have >200 CGG repeats with premutation carriers having 55–200 CGG repeats. A wide spectrum of physical, behavioural, cognitive, psychiatric and medical problems have been associated with both full mutation and premutation carriers of FraX. In this review, we detail the clinical profile and examine the aetiology, epidemiology, neuropathology, neuroimaging findings and possible management strategies for individuals with both the full mutation and premutation of FraX.
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Metadata
Title
Fragile X-associated disorders: a clinical overview
Authors
Anne Gallagher
Brian Hallahan
Publication date
01-03-2012
Publisher
Springer-Verlag
Published in
Journal of Neurology / Issue 3/2012
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-011-6161-3

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