Journal of Neurology

, Volume 259, Issue 3, pp 401–413 | Cite as

Fragile X-associated disorders: a clinical overview

Review

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.

Keywords

Fragile X syndrome MRI Fragile X tremor ataxia syndrome (FXTAS) 

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  1. 1.Department of Psychiatry, Clinical Science InstituteNational University of Ireland GalwayGalwayIreland
  2. 2.Department of PsychiatryRoscommon County HospitalRoscommonIreland

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