scholarly journals Carriage of Supernumerary Sex Chromosomes Decreases the Volume and Alters the Shape of Limbic Structures

2018 ◽  
Author(s):  
Ajay Nadig ◽  
Paul K. Reardon ◽  
Jakob Seidlitz ◽  
Cassidy L. McDermott ◽  
Jonathan D. Blumenthal ◽  
...  

AbstractSex chromosome aneuploidy (SCA) enhances risk for several psychiatric disorders associated with the limbic system, including mood and autism spectrum disorders. These patients provide a powerful genetics-first model for understanding the biological basis of psychopathology. Additionally, these disorders are frequently sex-biased in prevalence, further suggesting an etiological role for sex chromosomes. To clarify how limbic anatomy varies across sex and sex chromosome complement, we characterized amygdala and hippocampus structure in a uniquely large sample of patients carrying supernumerary sex chromosomes (n = 132) and typically developing controls (n=166). After correction for sex-differences in brain size, karyotypically normal males (XY) and females (XX) did not differ in volume or shape of either structure. In contrast, all SCAs were associated with lowered amygdala volume relative to gonadally-matched controls. This effect was robust to three different methods for total brain volume correction, including an allometric analysis that derived normative scaling rules for these structures in a separate, typically developing population (n = 79). Hippocampal volume was insensitive to SCA after correction for total brain volume. However, surface-based analysis revealed that SCA, regardless of specific karyotype, was consistently associated with a spatially specific pattern of shape change in both amygdala and hippocampus. In particular, SCA was accompanied by contraction around the basomedial nucleus of the amygdala and an area within the hippocampal surface that cuts across hippocampal subfields. These results demonstrate the power of SCA as a model to understand how copy number variation can precipitate changes in brain systems relevant to psychiatric disease.

2009 ◽  
Vol 66 (4) ◽  
pp. 316-319 ◽  
Author(s):  
Christine M. Freitag ◽  
Eileen Luders ◽  
Hanneke E. Hulst ◽  
Katherine L. Narr ◽  
Paul M. Thompson ◽  
...  

Author(s):  
P. Yugander ◽  
M. Jagannath

Autism Spectrum Disorder (ASD) is widely developing neurodevelopmental disorder. The ASD is a lifelong neurodevelopmental disorder that effects the social interaction and behavior of human beings. In this review, we presented structural magnetic resonance imaging (sMRI) studies that were examined in structural brain abnormalities of ASD patients. To date sMRI results were distinct, due to the diversity of the ASD itself. The accelerated brain volume is the uniform finding of ASD. However, the recent investigation reports have started to interpret the structural abnormalities of ASD patient’s brain. The most common abnormalities found in total brain volume, cerebellum, amygdala, hippocampal, basal ganglia, insula, gray and white matter. Limited sMRI research has been done on less than 2 years ASD children. Future research should include autistic children less than 2 years along with functional MRI and diffusion tensor imaging.


2015 ◽  
Vol 38 (1) ◽  
pp. 34-40 ◽  
Author(s):  
Yiran Chen ◽  
Hosung Kim ◽  
Robert Bok ◽  
Subramaniam Sukumar ◽  
Xin Mu ◽  
...  

Hyperpolarized 13C magnetic resonance imaging has recently been used to dynamically image metabolism in vivo. This technique provides the capability to investigate metabolic changes in mouse brain development over multiple time points. In this study, we used 13C magnetic resonance spectroscopic imaging and hyperpolarized 13C-1-labeled pyruvate to analyze its conversion into lactate. We also applied T2-weighted anatomical imaging to examine brain volume changes starting from postnatal day 18 (P18). We combined these results with body weight measurements for a comprehensive interpretation of mouse brain maturation. Both the produced lactate level and pyruvate to lactate conversion rate decreased with increasing age in a linear manner. Total brain volume remained the same after P18, even though body weight continued to grow exponentially. Our results have shown that the rate of metabolism of 13C-1 pyruvate to lactate in brain is high in the young mouse and decreases with age. The brain at P18 is still relatively immature and continues to develop even as the total brain volume remains the same.


Endocrinology ◽  
2013 ◽  
Vol 154 (3) ◽  
pp. 1092-1104 ◽  
Author(s):  
Xuqi Chen ◽  
Rebecca McClusky ◽  
Yuichiro Itoh ◽  
Karen Reue ◽  
Arthur P. Arnold

Abstract Three different models of MF1 strain mice were studied to measure the effects of gonadal secretions and sex chromosome type and number on body weight and composition, and on related metabolic variables such as glucose homeostasis, feeding, and activity. The 3 genetic models varied sex chromosome complement in different ways, as follows: 1) “four core genotypes” mice, comprising XX and XY gonadal males, and XX and XY gonadal females; 2) the XY* model comprising groups similar to XO, XX, XY, and XXY; and 3) a novel model comprising 6 groups having XO, XX, and XY chromosomes with either testes or ovaries. In gonadally intact mice, gonadal males were heavier than gonadal females, but sex chromosome complement also influenced weight. The male/female difference was abolished by adult gonadectomy, after which mice with 2 sex chromosomes (XX or XY) had greater body weight and percentage of body fat than mice with 1 X chromosome. A second sex chromosome of either type, X or Y, had similar effects, indicating that the 2 sex chromosomes each possess factors that influence body weight and composition in the MF1 genetic background. Sex chromosome complement also influenced metabolic variables such as food intake and glucose tolerance. The results reveal a role for the Y chromosome in metabolism independent of testes and gonadal hormones and point to a small number of X–Y gene pairs with similar coding sequences as candidates for causing these effects.


2014 ◽  
Vol 45 (7) ◽  
pp. 1389-1399 ◽  
Author(s):  
H. C. Saavedra Pérez ◽  
M. A. Ikram ◽  
N. Direk ◽  
H. G. Prigerson ◽  
R. Freak-Poli ◽  
...  

BackgroundSeveral psychosocial risk factors for complicated grief have been described. However, the association of complicated grief with cognitive and biological risk factors is unclear. The present study examined whether complicated grief and normal grief are related to cognitive performance or structural brain volumes in a large population-based study.MethodThe present research comprised cross-sectional analyses embedded in the Rotterdam Study. The study included 5501 non-demented persons. Participants were classified as experiencing no grief (n = 4731), normal grief (n = 615) or complicated grief (n = 155) as assessed with the Inventory of Complicated Grief. All persons underwent cognitive testing (Mini-Mental State Examination, Letter–Digit Substitution Test, Stroop Test, Word Fluency Task, word learning test – immediate and delayed recall), and magnetic resonance imaging to measure general brain parameters (white matter, gray matter), and white matter lesions. Total brain volume was defined as the sum of gray matter plus normal white matter and white matter lesion volume. Persons with depressive disorders were excluded and analyses were adjusted for depressive symptoms.ResultsCompared with no-grief participants, participants with complicated grief had lower scores for the Letter–Digit Substitution Test [Z-score −0.16 v. 0.04, 95% confidence interval (CI) −0.36 to −0.04, p = 0.01] and Word Fluency Task (Z-score −0.15 v. 0.03, 95% CI −0.35 to −0.02, p = 0.02) and smaller total volumes of brain matter (933.53 ml v. 952.42 ml, 95% CI −37.6 to −0.10, p = 0.04).ConclusionsParticipants with complicated grief performed poorly in cognitive tests and had a smaller total brain volume. Although the effect sizes were small, these findings suggest that there may be a neurological correlate of complicated grief, but not of normal grief, in the general population.


Stroke ◽  
2019 ◽  
Vol 50 (4) ◽  
pp. 783-788 ◽  
Author(s):  
Jeremy P. Berman ◽  
Faye L. Norby ◽  
Thomas Mosley ◽  
Elsayed Z. Soliman ◽  
Rebecca F. Gottesman ◽  
...  

Background and Purpose— Atrial fibrillation (AF) is associated with dementia independent of clinical stroke. The mechanisms underlying this association remain unclear. In a community-based cohort, the ARIC study (Atherosclerosis Risk in Communities), we evaluated (1) the longitudinal association of incident AF and (2) the cross-sectional association of prevalent AF with brain magnetic resonance imaging (MRI) abnormalities. Methods— The longitudinal analysis included 963 participants (mean age, 73±4.4 years; 62% women; 51% black) without prevalent stroke or AF who underwent a brain MRI in 1993 to 1995 and a second MRI in 2004 to 2006 (mean, 10.6±0.8 years). Outcomes included subclinical cerebral infarctions, sulcal size, ventricular size, and, for the cross-sectional analysis, white matter hyperintensity volume and total brain volume. Results— In the longitudinal analysis, 29 (3.0%) participants developed AF after the first brain MRI. Those who developed AF had higher odds of increase in subclinical cerebral infarctions (odds ratio [OR], 3.08; 95% CI, 1.39–6.83), worsening sulcal grade (OR, 3.56; 95% CI, 1.04–12.2), and worsening ventricular grade (OR, 9.34; 95% CI, 1.24–70.2). In cross-sectional analysis, of 969 participants, 35 (3.6%) had prevalent AF at the time of the 2004 to 2006 MRI scan. Those with AF had greater odds of higher sulcal (OR, 3.9; 95% CI, 1.7–9.1) and ventricular grade (OR, 2.4; 95% CI, 1.0–5.7) after multivariable adjustment and no difference in white matter hyperintensity or total brain volume. Conclusions— AF is independently associated with increase in subclinical cerebral infarction and worsening sulcal and ventricular grade—morphological changes associated with aging and dementia. More research is needed to define the mechanisms underlying AF-related neurodegeneration.


2017 ◽  
Vol 37 (21) ◽  
pp. 5221-5231 ◽  
Author(s):  
Catherine Mankiw ◽  
Min Tae M. Park ◽  
P.K. Reardon ◽  
Ari M. Fish ◽  
Liv S. Clasen ◽  
...  

2008 ◽  
Vol 21 (4) ◽  
pp. 500-504 ◽  
Author(s):  
P. Papapostolou ◽  
F. Goutsaridou ◽  
M. Arvaniti ◽  
M. Emmanouilidou ◽  
G. Tezapsidis ◽  
...  

2015 ◽  
Vol 145 (8) ◽  
pp. 1817-1823 ◽  
Author(s):  
Elske M Brouwer-Brolsma ◽  
Nikita L van der Zwaluw ◽  
Janneke P van Wijngaarden ◽  
Rosalie A Dhonukshe-Rutten ◽  
Paulette H in 't Veld ◽  
...  

2015 ◽  
Vol 35 (11) ◽  
pp. 1882-1887 ◽  
Author(s):  
Hazel I Zonneveld ◽  
Elizabeth A Loehrer ◽  
Albert Hofman ◽  
Wiro J Niessen ◽  
Aad van der Lugt ◽  
...  

The question remains whether reduced cerebral blood flow (CBF) leads to brain atrophy or vice versa. We studied the longitudinal relation between CBF and brain volume in a community-dwelling population. In the Rotterdam Study, 3011 participants (mean age 59.6 years (s.d. 8.0)) underwent repeat brain magnetic resonance imaging to quantify brain volume and CBF at two time points. Adjusted linear regression models were used to investigate the bidirectional relation between CBF and brain volume. We found that smaller brain volume at baseline was associated with a steeper decrease in CBF in the whole population (standardized change per s.d. increase of total brain volume (TBV) = 0.296 (95% confidence interval (CI) 0.200; 0.393)). Only in persons aged ≥ 65 years, a lower CBF at baseline was associated with steeper decline of TBV (standardized change per s.d. increase of CBF = 0.003 (95% CI −0.004; 0.010) in the whole population and 0.020 (95% CI 0.004; 0.036) in those aged ≥65 years of age). Our results indicate that brain atrophy causes CBF to decrease over time, rather than vice versa. Only in persons aged >65 years of age did we find lower CBF to also relate to brain atrophy.


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