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

Hdl Handle:
http://hdl.handle.net/10147/244237
Title:
Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers
Authors:
Hallahan, Brian P; Daly, Eileen M; Simmons, Andrew; Moore, Caroline J; Murphy, Kieran C; Murphy, Declan D G
Citation:
Journal of Neurodevelopmental Disorders. 2012 Aug 30;4(1):23
Issue Date:
30-Aug-2012
URI:
http://dx.doi.org/10.1186/1866-1955-4-23; http://hdl.handle.net/10147/244237
Abstract:
AbstractPurposeThere 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.MethodsWe 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.ResultsThere 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.ConclusionsThis 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.
Item Type:
Journal Article

Full metadata record

DC FieldValue Language
dc.contributor.authorHallahan, Brian P-
dc.contributor.authorDaly, Eileen M-
dc.contributor.authorSimmons, Andrew-
dc.contributor.authorMoore, Caroline J-
dc.contributor.authorMurphy, Kieran C-
dc.contributor.authorMurphy, Declan D G-
dc.date.accessioned2012-09-17T09:10:14Z-
dc.date.available2012-09-17T09:10:14Z-
dc.date.issued2012-08-30-
dc.identifier.citationJournal of Neurodevelopmental Disorders. 2012 Aug 30;4(1):23-
dc.identifier.urihttp://dx.doi.org/10.1186/1866-1955-4-23-
dc.identifier.urihttp://hdl.handle.net/10147/244237-
dc.description.abstractAbstractPurposeThere 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.MethodsWe 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.ResultsThere 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.ConclusionsThis 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.-
dc.titleFragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers-
dc.typeJournal Article-
dc.language.rfc3066en-
dc.rights.holderBrian P Hallahan et al.; licensee BioMed Central Ltd.-
dc.description.statusPeer Reviewed-
dc.date.updated2012-09-15T19:14:58Z-
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