In vivo brain anatomy of adult males with Fragile X syndrome: an MRI study.

Hdl Handle:
http://hdl.handle.net/10147/230231
Title:
In vivo brain anatomy of adult males with Fragile X syndrome: an MRI study.
Authors:
Hallahan, Brian P; Craig, Michael C; Toal, Fiona; Daly, Eileen M; Moore, Caroline J; Ambikapathy, Anita; Robertson, Dene; Murphy, Kieran C; Murphy, Declan G M
Affiliation:
Department of Psychological Medicine, Institute of Psychiatry, King's College, London, UK. brian.hallahan@nuigalway.ie
Citation:
In vivo brain anatomy of adult males with Fragile X syndrome: an MRI study. 2011, 54 (1):16-24 Neuroimage
Journal:
NeuroImage
Issue Date:
1-Jan-2011
URI:
http://hdl.handle.net/10147/230231
DOI:
10.1016/j.neuroimage.2010.08.015
PubMed ID:
20708694
Abstract:
Fragile X Syndrome (FraX) is caused by the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome, and is a leading cause of learning disability (mental retardation) worldwide. Relatively few studies, however, have examined the neuroanatomical abnormalities associated with FraX. Of those that are available many included mixed gender populations, combined FraX children and adults into one sample, and employed manual tracing techniques which measures bulk volume of particular regions. Hence, there is relatively little information on differences in grey and white matter content across whole brain. We employed magnetic resonance imaging to investigate brain anatomy in 17 adult males with FraX and 18 healthy controls that did not differ significantly in age. Data were analysed using stereology and VBM to compare (respectively) regional brain bulk volume, and localised grey/white matter content. Using stereology we found that FraX males had a significant increase in bulk volume bilaterally of the caudate nucleus and parietal lobes and of the right brainstem, but a significant decrease in volume of the left frontal lobe. Our complimentary VBM analysis revealed an increased volume of grey matter in fronto-striatal regions (including bilaterally in the caudate nucleus), and increased white matter in regions extending from the brainstem to the parahippocampal gyrus, and from the left cingulate cortex extending into the corpus callosum. People with FraX have regionally specific differences in brain anatomy from healthy controls with enlargement of the caudate nuclei that persists into adulthood.
Item Type:
Article
Language:
en
MeSH:
Adult; Brain; Brain Mapping; Brain Stem; Caudate Nucleus; Corpus Callosum; DNA Repeat Expansion; Fragile X Mental Retardation Protein; Fragile X Syndrome; Functional Laterality; Genotype; Humans; Intelligence Tests; Magnetic Resonance Imaging; Male; Organ Size; Polymerase Chain Reaction; Reference Values; Trinucleotide Repeats; Young Adult
ISSN:
1095-9572

Full metadata record

DC FieldValue Language
dc.contributor.authorHallahan, Brian Pen_GB
dc.contributor.authorCraig, Michael Cen_GB
dc.contributor.authorToal, Fionaen_GB
dc.contributor.authorDaly, Eileen Men_GB
dc.contributor.authorMoore, Caroline Jen_GB
dc.contributor.authorAmbikapathy, Anitaen_GB
dc.contributor.authorRobertson, Deneen_GB
dc.contributor.authorMurphy, Kieran Cen_GB
dc.contributor.authorMurphy, Declan G Men_GB
dc.date.accessioned2012-06-22T12:45:11Z-
dc.date.available2012-06-22T12:45:11Z-
dc.date.issued2011-01-01-
dc.identifier.citationIn vivo brain anatomy of adult males with Fragile X syndrome: an MRI study. 2011, 54 (1):16-24 Neuroimageen_GB
dc.identifier.issn1095-9572-
dc.identifier.pmid20708694-
dc.identifier.doi10.1016/j.neuroimage.2010.08.015-
dc.identifier.urihttp://hdl.handle.net/10147/230231-
dc.description.abstractFragile X Syndrome (FraX) is caused by the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome, and is a leading cause of learning disability (mental retardation) worldwide. Relatively few studies, however, have examined the neuroanatomical abnormalities associated with FraX. Of those that are available many included mixed gender populations, combined FraX children and adults into one sample, and employed manual tracing techniques which measures bulk volume of particular regions. Hence, there is relatively little information on differences in grey and white matter content across whole brain. We employed magnetic resonance imaging to investigate brain anatomy in 17 adult males with FraX and 18 healthy controls that did not differ significantly in age. Data were analysed using stereology and VBM to compare (respectively) regional brain bulk volume, and localised grey/white matter content. Using stereology we found that FraX males had a significant increase in bulk volume bilaterally of the caudate nucleus and parietal lobes and of the right brainstem, but a significant decrease in volume of the left frontal lobe. Our complimentary VBM analysis revealed an increased volume of grey matter in fronto-striatal regions (including bilaterally in the caudate nucleus), and increased white matter in regions extending from the brainstem to the parahippocampal gyrus, and from the left cingulate cortex extending into the corpus callosum. People with FraX have regionally specific differences in brain anatomy from healthy controls with enlargement of the caudate nuclei that persists into adulthood.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to NeuroImageen_GB
dc.subject.meshAdult-
dc.subject.meshBrain-
dc.subject.meshBrain Mapping-
dc.subject.meshBrain Stem-
dc.subject.meshCaudate Nucleus-
dc.subject.meshCorpus Callosum-
dc.subject.meshDNA Repeat Expansion-
dc.subject.meshFragile X Mental Retardation Protein-
dc.subject.meshFragile X Syndrome-
dc.subject.meshFunctional Laterality-
dc.subject.meshGenotype-
dc.subject.meshHumans-
dc.subject.meshIntelligence Tests-
dc.subject.meshMagnetic Resonance Imaging-
dc.subject.meshMale-
dc.subject.meshOrgan Size-
dc.subject.meshPolymerase Chain Reaction-
dc.subject.meshReference Values-
dc.subject.meshTrinucleotide Repeats-
dc.subject.meshYoung Adult-
dc.titleIn vivo brain anatomy of adult males with Fragile X syndrome: an MRI study.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Psychological Medicine, Institute of Psychiatry, King's College, London, UK. brian.hallahan@nuigalway.ieen_GB
dc.identifier.journalNeuroImageen_GB
dc.description.provinceLeinsteren

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