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      Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

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          Abstract

          Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to understanding the relationship between gene expression, brain structure, and subsequent cognitive disabilities and psychiatric disorders.

          We conducted the largest to date voxel-based morphometry study of 65 KS subjects and 65 controls matched for age and education and correlated these data to neuropsychological test scores. The KS patients had significantly smaller total brain volume (TBV), total gray matter volume (GMV) and total white matter volume (WMV) compared to controls, whereas no volumetric difference in cerebral spinal fluid (CSF) was found. There were no differences in TBV, GMV, WMV or CSF between testosterone treated KS (T-KS) and untreated KS (U-KS) patients. Compared to controls, KS patients had significantly decreased GMV bilaterally in insula, putamen, caudate, hippocampus, amygdala, temporal pole and frontal inferior orbita. Additionally, the right parahippocampal region and cerebellar volumes were reduced in KS patients. KS patients had significantly larger volumes in right postcentral gyrus, precuneus and parietal regions. Multivariate classification analysis discriminated KS patients from controls with 96.9% (p < 0.001) accuracy. Regression analyses, however, revealed no significant association between GMV differences and cognitive and psychological factors within the KS patients and controls or the groups combined. These results show that although gene dosage effect of having and extra X-chromosome may lead to large scale alterations of brain morphometry and extended cognitive disabilities no simple correspondence links these measures.

          Highlights

          • KS is associated with reduced global and regional brain volumes.

          • Based on the brain scans the KS diagnosis could be predicted with 96.9% accuracy.

          • No correlations were found between brain volumes and neuropsychological measures.

          • No effect of testosterone treatment on brain volumes was seen in the KS patients.

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          Most cited references52

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          Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing

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            Parallel organization of functionally segregated circuits linking basal ganglia and cortex.

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              Evaluation of 14 nonlinear deformation algorithms applied to human brain MRI registration.

              All fields of neuroscience that employ brain imaging need to communicate their results with reference to anatomical regions. In particular, comparative morphometry and group analysis of functional and physiological data require coregistration of brains to establish correspondences across brain structures. It is well established that linear registration of one brain to another is inadequate for aligning brain structures, so numerous algorithms have emerged to nonlinearly register brains to one another. This study is the largest evaluation of nonlinear deformation algorithms applied to brain image registration ever conducted. Fourteen algorithms from laboratories around the world are evaluated using 8 different error measures. More than 45,000 registrations between 80 manually labeled brains were performed by algorithms including: AIR, ANIMAL, ART, Diffeomorphic Demons, FNIRT, IRTK, JRD-fluid, ROMEO, SICLE, SyN, and four different SPM5 algorithms ("SPM2-type" and regular Normalization, Unified Segmentation, and the DARTEL Toolbox). All of these registrations were preceded by linear registration between the same image pairs using FLIRT. One of the most significant findings of this study is that the relative performances of the registration methods under comparison appear to be little affected by the choice of subject population, labeling protocol, and type of overlap measure. This is important because it suggests that the findings are generalizable to new subject populations that are labeled or evaluated using different labeling protocols. Furthermore, we ranked the 14 methods according to three completely independent analyses (permutation tests, one-way ANOVA tests, and indifference-zone ranking) and derived three almost identical top rankings of the methods. ART, SyN, IRTK, and SPM's DARTEL Toolbox gave the best results according to overlap and distance measures, with ART and SyN delivering the most consistently high accuracy across subjects and label sets. Updates will be published on the http://www.mindboggle.info/papers/ website.
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                Author and article information

                Contributors
                Journal
                Neuroimage Clin
                Neuroimage Clin
                NeuroImage : Clinical
                Elsevier
                2213-1582
                29 October 2013
                29 October 2013
                2014
                : 4
                : 1-9
                Affiliations
                [a ]Department of Endocrinology and Internal Medicine (MEA), Aarhus University Hospital, 8000 Aarhus C, Denmark
                [b ]Department of Molecular Medicine, Aarhus University Hospital, 8200 Aarhus N, Denmark
                [c ]Center of Functionally Integrative Neuroscience, Aarhus University Hospital, 8000 Aarhus C, Denmark
                [d ]Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, 7100 Vejle, Denmark
                [e ]The Research Clinic for Functional Disorders and Psychosomatics, Aarhus University Hospital, 8200 Aarhus N, Denmark
                [f ]Fertility Clinic, Department of Gynecology and Obstetrics, Odense University Hospital, 5000 Odense, Denmark
                [g ]Department of Endocrinology, Aalborg University Hospital, 9000 Aalborg, Denmark
                [h ]Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark
                [i ]Center for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, 8200 Aarhus N, Denmark
                [j ]Vejlefjord Rehabilitation Center, 7140 Stouby, Denmark
                [k ]Department of Psychology and Behavioral Sciences, Aarhus University, 8000 Aarhus C, Denmark
                [l ]Center for Semiotics, Aarhus University, 8000 Aarhus C, Denmark
                Author notes
                [* ]Corresponding author. Tel.: + 45 27 21 29 98; fax: + 45 78 20 72. asj@ 123456ki.au.dk
                Article
                S2213-1582(13)00143-5
                10.1016/j.nicl.2013.10.013
                3830066
                24266006
                3a9e2419-ed7e-49e9-bdad-8651447b2659
                © 2013 The Authors

                This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike License, which permits non-commercial use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                : 9 July 2013
                : 6 October 2013
                : 21 October 2013
                Categories
                Article

                klinefelter syndrome,mri,cognition,personality,mental disorders

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