Global and regional volume changes in the brains of patients with phenylketonuria

Neurology ◽  
2006 ◽  
Vol 66 (7) ◽  
pp. 1074-1078 ◽  
Author(s):  
B. Pérez-Dueñas ◽  
J. Pujol ◽  
C. Soriano-Mas ◽  
H. Ortiz ◽  
R. Artuch ◽  
...  

Background: Although phenylketonuria is a treatable disease, patients with late or nonoptimal phenylalanine-restricted diet may experience brain damage. The authors used tridimensional MRI and a voxelwise analysis method to investigate possible volume changes in the brain parenchyma of patients with phenylketonuria.Methods: The authors assessed 27 treated patients (mean age ± SD, 20 ± 7 years) and 27 matched control subjects. Global tissue volumes were compared, and statistical parametric maps of between-group regional volume differences were obtained for gray and white matter. Anatomic data were correlated with relevant clinical and biochemical variables.Results: Patients with phenylketonuria showed smaller gray matter volumes that were associated with lower IQ and older age at diagnosis. Voxel-based maps revealed that significant gray matter volume reduction occurred in motor and premotor cortex and thalamus. A relative increase in gray matter volume was observed in the ventral part of the striatum. The authors found no group differences for global white matter measurements. Higher recent phenylalanine levels, however, were associated with larger global white matter volume in early-treated patients. Voxel-based maps showed a relative volume reduction in periventricular white matter and a relative increase in the region of the internal capsule, extending to the adjacent thalamus and striatum.Conclusions: Treated patients may show significant gray and white matter volume changes related to the duration and strict observation of dietary treatment. Further studies are needed to investigate whether the presence of neurologic symptoms may be explained by specific anatomic alterations.

1999 ◽  
Vol 45 (4, Part 2 of 2) ◽  
pp. 343A-343A
Author(s):  
Terrie E Inder ◽  
Petra S Huppi ◽  
Simon Warfield ◽  
Ron Kikinis ◽  
Gary P Zientara ◽  
...  

2019 ◽  
Vol 61 (3) ◽  
pp. 395-403
Author(s):  
Biao Li ◽  
Yu-Xin Liu ◽  
Hai-Jun Li ◽  
Qing Yuan ◽  
Pei-Wen Zhu ◽  
...  

Background We know little about the pathogenesis and diagnosis of retinal detachment. Purpose To assess spontaneous changes in the cerebral cortex of patients with retinal detachment using voxel-based morphometry and to explore the relationship between retinal detachment and clinical behavioral performance. Material and Methods Patients (14 men, 6 women; average age = 49.15 ± 10.32 years) with rhegmatogenous retinal detachment (duration of 24.05 ± 19.61 days) and 20 matched healthy controls were recruited. All participants underwent repeated functional magnetic resonance imaging scans. The original three-dimensional T1 brain images were analyzed using voxel-based morphometry and whole brain white matter volume and whole brain gray matter volume were compared with those of the control group. A receiver operating characteristic (ROC) curve was used to classify the mean gray matter volume values of the patients with retinal detachment compared with the controls. Results Compared with the controls, whole brain gray matter volume was significantly reduced in patients with retinal detachment, as evidenced by changes in the right inferior frontal gyrus, right superior temporal gyrus, right anterior cingulate gyrus, and right cuneus. In addition, the posterior lobe of the cerebellum, left hippocampus, left cingulate gyrus, and left middle temporal gyrus were also obviously atrophied. Furthermore, whole brain white matter volume of the patients with retinal detachment showed a slight reduction. The ROC curve analysis of each brain region showed that the accuracy of the area under the curve was high. Conclusion We proved that patients with retinal detachment had unusual changes in the gray matter volume and white matter volume in vision-related brain regions, which could reveal potential pathological mechanisms of retinal detachment.


2020 ◽  
Vol 14 ◽  
Author(s):  
Timothy J. Meeker ◽  
Dieuwke S. Veldhuijzen ◽  
Michael L. Keaser ◽  
Rao P. Gullapalli ◽  
Joel D. Greenspan

The role of gonadal hormones in neural plasticity remains unclear. This study aimed to examine the effects of naturally fluctuating hormone levels over the menstrual cycle in healthy females. Gray matter, functional connectivity (FC) and white matter changes over the cycle were assessed by using functional magnetic resonance imaging (fMRI), resting state fMRI, and structural MRIs, respectively, and associated with serum gonadal hormone levels. Moreover, electrocutaneous sensitivity was evaluated in 14 women in four phases of their menstrual cycle (menstrual, follicular, ovulatory, and luteal). Electrocutaneous sensitivity was greater during follicular compared to menstrual phase. Additionally, pain unpleasantness was lower in follicular phase than other phases while pain intensity ratings did not change over the cycle. Significant variations in cycle phase effects on gray matter volume were found in the left inferior parietal lobule (IPL) using voxel-based morphometry. Subsequent Freesurfer analysis revealed greater thickness of left IPL during the menstrual phase when compared to other phases. Also, white matter volume fluctuated across phases in left IPL. Blood estradiol was positively correlated with white matter volume both in left parietal cortex and whole cortex. Seed-driven FC between left IPL and right secondary visual cortex was enhanced during ovulatory phase. A seed placed in right IPL revealed enhanced FC between left and right IPL during the ovulatory phase. Additionally, we found that somatosensory cortical gray matter was thinner during follicular compared to menstrual phase. We discuss these results in the context of likely evolutionary pressures selecting for enhanced perceptual sensitivity across modalities specifically during ovulation.


2016 ◽  
Vol 51 (1) ◽  
pp. 32-41 ◽  
Author(s):  
Jerome J Maller ◽  
Rodney J Anderson ◽  
Richard H Thomson ◽  
Zafiris J Daskalakis ◽  
Jeffrey V Rosenfeld ◽  
...  

Objective: To investigate the prevalence of occipital bending (an occipital lobe crossing or twisting across the midline) in subjects with schizophrenia and matched healthy controls. Method: Occipital bending prevalence was investigated in 37 patients with schizophrenia and 44 healthy controls. Results: Ratings showed that prevalence was nearly three times higher among schizophrenia patients (13/37 [35.1%]) than in control subjects (6/44 [13.6%]). Furthermore, those with schizophrenia had greater normalized gray matter volume but less white matter volume and had larger brain-to-cranial ratio. Conclusion: The results suggest that occipital bending is more prevalent among schizophrenia patients than healthy subjects and that schizophrenia patients have different gray matter–white matter proportions. Although the cause and clinical ramifications of occipital bending are unclear, the results infer that occipital bending may be a marker of psychiatric illness.


2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Cécile Tissot ◽  
◽  
Andréa L. Benedet ◽  
Joseph Therriault ◽  
Tharick A. Pascoal ◽  
...  

Abstract Background To investigate the association of plasma pTau181, assessed with a new immunoassay, with neurodegeneration of white matter and gray matter cross-sectionally and longitudinally, in aging and Alzheimer’s disease. Methods Observational data was obtained from the Alzheimer’s Disease Neuroimaging Initiative, in which participants underwent plasma assessment and magnetic resonance imaging. Based on their clinical diagnosis, participants were classified as cognitively unimpaired and cognitively impaired. Linear regressions and linear mixed-effect models were used to test the cross-sectional and longitudinal associations between baseline plasma pTau181 and neurodegeneration using voxel-based morphometry. Results We observed a negative correlation at baseline between plasma pTau181 and gray matter volume in cognitively unimpaired individuals. In cognitively impaired individuals, we observed a negative association between plasma pTau181 and both gray and white matter volume. In longitudinal analyses conducted in the cognitively unimpaired group, plasma pTau181 was negatively correlated with gray matter volume, starting 36 months after baseline assessments. Finally, in cognitively impaired individuals, plasma pTau181 concentrations were negatively correlated with both gray and white matter volume as early as 12 months after baseline, and neurodegeneration increased in an incremental manner until 48 months. Conclusions Higher levels of plasma pTau181 correlate with neurodegeneration and predict further brain atrophy in aging and Alzheimer’s disease. Plasma pTau181 may be useful in predicting AD-related neurodegeneration, comparable to positron emission tomography or cerebrospinal fluid assessment with high specificity for AD neurodegeneration.


2012 ◽  
Vol 43 (01) ◽  
Author(s):  
M Obermann ◽  
R Rodriguez-Raecke ◽  
S Nägel ◽  
D Holle ◽  
N Theysohn ◽  
...  

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