In vivo brain anatomy of adult males with Fragile X syndrome: an MRI study.
AuthorsHallahan, Brian P
Craig, Michael C
Daly, Eileen M
Moore, Caroline J
Murphy, Kieran C
Murphy, Declan G M
AffiliationDepartment of Psychological Medicine, Institute of Psychiatry, King's College, London, UK. firstname.lastname@example.org
DNA Repeat Expansion
Fragile X Mental Retardation Protein
Fragile X Syndrome
Magnetic Resonance Imaging
Polymerase Chain Reaction
MetadataShow full item record
CitationIn vivo brain anatomy of adult males with Fragile X syndrome: an MRI study. 2011, 54 (1):16-24 Neuroimage
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.
- The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.
- Authors: Moore CJ, Daly EM, Tassone F, Tysoe C, Schmitz N, Ng V, Chitnis X, McGuire P, Suckling J, Davies KE, Hagerman RJ, Hagerman PJ, Murphy KC, Murphy DG
- Issue date: 2004 Dec
- Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study.
- Authors: Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Catani M, Ng V, van Amelsvoort T, Chitnis X, Cutter W, Murphy DG, Murphy KC
- Issue date: 2006 May
- Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes.
- Authors: Jäkälä P, Hänninen T, Ryynänen M, Laakso M, Partanen K, Mannermaa A, Soininen H
- Issue date: 1997 Jul 15
- Prefrontal and anterior cingulate cortex abnormalities in Tourette Syndrome: evidence from voxel-based morphometry and magnetization transfer imaging.
- Authors: Müller-Vahl KR, Kaufmann J, Grosskreutz J, Dengler R, Emrich HM, Peschel T
- Issue date: 2009 May 12
- Magnetic resonance imaging study in older fragile X premutation male carriers.
- Authors: Loesch DZ, Litewka L, Brotchie P, Huggins RM, Tassone F, Cook M
- Issue date: 2005 Aug