In vivo brain anatomy of adult males with Fragile X syndrome: an MRI study.
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Authors
Hallahan, Brian PCraig, 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.ieIssue Date
2011-01-01MeSH
AdultBrain
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
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In vivo brain anatomy of adult males with Fragile X syndrome: an MRI study. 2011, 54 (1):16-24 NeuroimageJournal
NeuroImageDOI
10.1016/j.neuroimage.2010.08.015PubMed ID
20708694Abstract
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
ArticleLanguage
enISSN
1095-9572ae974a485f413a2113503eed53cd6c53
10.1016/j.neuroimage.2010.08.015
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