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Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers

Brian P Hallahan12*, Eileen M Daly2, Andrew Simmons34, Caroline J Moore2, Kieran C Murphy5 and Declan D G Murphy2

Author Affiliations

1 Department of Psychiatry, National University of Ireland Galway, Galway, Ireland

2 Section of Brain Maturation, Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, King’s College London, London, UK

3 Department of Neuroimaging, Institute of Psychiatry, King’s College London, London, UK

4 NIHR Biomedical Research Centre for Mental Health, London, UK

5 Department of Psychiatry, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland

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Journal of Neurodevelopmental Disorders 2012, 4:23  doi:10.1186/1866-1955-4-23

Published: 30 August 2012



There is increasing evidence that neurodevelopmental differences in people with Fragile X syndrome (FraX) may be explained by differences in glutamatergic metabolism. Premutation carriers of FraX were originally considered to be unaffected although several recent reports demonstrate neuroanatomical, cognitive, and emotional differences from controls. However there are few studies on brain metabolism in premutation carriers of FraX.


We used proton magnetic resonance spectroscopy to compare neuronal integrity of a number of brain metabolites including N-Acetyl Aspartate, Creatine + Phosphocreatinine, Choline, myoInositol, and Glutamate containing substances (Glx) in 17 male premutation carriers of FraX and 16 male healthy control individuals.


There was no significant between-group difference in the concentration of any measured brain metabolites. However there was a differential increase in N-acetyl aspartate with aging in premutation FraX individuals compared to controls.


This is the first 1 H-MRS study to examine premutation FraX individuals. Although we demonstrated no difference in the concentration of any of the metabolites examined between the groups, this may be due to the large age ranges included in the two samples. The differential increase in NAA levels with aging may reflect an abnormal synaptic pruning process.

Fragile X; Premutation carriers; MRS; NAA