Royal College of Surgeons in Ireland
Browse
Fragile X syndrome: a pilot proton magnetic resonance spectroscop.pdf (1.06 MB)

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

Download (1.06 MB)
Version 2 2022-03-30, 13:16
Version 1 2019-11-22, 17:11
journal contribution
posted on 2019-11-22, 17:11 authored by Brian P. Hallahan, Eileen M. Daly, Andy Simmons, Caroline J. Moore, Kieran C. Murphy, Declan DG Murphy

ABSTRACT: PurposeThere 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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 which may reflect an abnormal synaptic pruning process.

History

Comments

This article is also available from www.biomedcentral.com

Published Citation

Hallahan BP, Daly EM, Simmons A, Moore CJ, Murphy KC, Murphy DD. Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers. Journal of Neurodevelopmental Disorders 2012, 4:23

Publication Date

2012-08-30

PubMed ID

22958351

Usage metrics

    Royal College of Surgeons in Ireland

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC