title: In vivo brain anatomy of adult males with Fragile X syndrome: an MRI study.
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.
authors: Department of Psychological Medicine, Institute of Psychiatry, King's College, London, UK. brian.hallahan@nuigalway.ie
authors: Brian P
authors: BP
authors: Hallahan
authors: Michael C
authors: MC
authors: Craig
authors: Fiona
authors: F
authors: Toal
authors: Eileen M
authors: EM
authors: Daly
authors: Caroline J
authors: CJ
authors: Moore
authors: Anita
authors: A
authors: Ambikapathy
authors: Dene
authors: D
authors: Robertson
authors: Kieran C
authors: KC
authors: Murphy
authors: Declan G M
authors: DG
authors: Murphy
mesh_terms: D000328:Adult; D001921:Brain / Q000033:anatomy & histology* / Q000473:pathology; D001931:Brain Mapping / Q000379:methods; D001933:Brain Stem / Q000033:anatomy & histology / Q000473:pathology; D002421:Caudate Nucleus / Q000033:anatomy & histology / Q000473:pathology; D003337:Corpus Callosum / Q000033:anatomy & histology / Q000473:pathology; D042622:DNA Repeat Expansion / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000235:genetics / Q000473:pathology* / Q000523:psychology; D007839:Functional Laterality; D005838:Genotype; D006801:Humans; D007361:Intelligence Tests; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009929:Organ Size; D016133:Polymerase Chain Reaction; D012016:Reference Values; D018911:Trinucleotide Repeats / Q000235:genetics; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human