Heterotopia in Individuals with 22q11.2 Deletion Syndrome.

BACKGROUND AND PURPOSE: MR imaging studies and neuropathologic findings in individuals with 22q11.2 deletion syndrome show anomalous early brain development. We aimed to retrospectively evaluate cerebral abnormalities, focusing on gray matter heterotopia, and to correlate these with subjects' neuropsychiatric impairments. MATERIALS AND METHODS: Three raters assessed gray matter heterotopia and other morphologic brain abnormalities on 3D T1WI and T2*WI in 75 individuals with 22q11.2 deletion syndrome (27 females, 15.5 [SD, 7.4] years of age) and 53 controls (24 females, 12.6 [SD, 4.7] years of age). We examined the association among the groups' most frequent morphologic findings, general cognitive performance, and comorbid neuropsychiatric conditions. RESULTS: Heterotopia in the white matter were the most frequent finding in individuals with 22q11.2 deletion syndrome (n = 29; controls, n = 0; between-group difference, P < .001), followed by cavum septi pellucidi and/or vergae (n = 20; controls, n = 0; P < .001), periventricular cysts (n = 10; controls, n = 0; P = .007), periventricular nodular heterotopia (n = 10; controls, n = 0; P = .007), and polymicrogyria (n = 3; controls, n = 0; P = .3). However, individuals with these morphologic brain abnormalities did not differ significantly from those without them in terms of general cognitive functioning and psychiatric comorbidities. CONCLUSIONS: Taken together, our findings, periventricular nodular heterotopia or heterotopia in the white matter (possibly related to interrupted Arc cells migration), persistent cavum septi pellucidi and/or vergae, and formation of periventricular cysts, give clues to the brain development disorder induced by the 22q11.2 deletion syndrome. There was no evidence that these morphologic findings were associated with differences in psychiatric or cognitive presentation of the 22q11.2 deletion syndrome.

Post-Surgical Language Reorganization Occurs in Tumors of the Dominant and Non-Dominant Hemisphere.

PURPOSE: Surgical resection of brain tumors may shift the location of cortical language areas. Studies of language reorganization primarily investigated left-hemispheric tumors irrespective of hemispheric language dominance. We used functional magnetic resonance imaging (fMRI) to investigate how tumors influence post-surgical language reorganization in relation to the dominant language areas. METHODS: A total of, 17 patients with brain tumors (16 gliomas, one metastasis) in the frontotemporal and lower parietal lobes planned for awake surgery underwent pre-surgical and post-surgical language fMRI. Language activation post-to-pre surgery was evaluated visually and quantitatively on the statistically thresholded images on patient-by-patient basis. Results were qualitatively compared between three patient groups: temporal, with tumors in the dominant temporal lobe, frontal, with tumors in the dominant frontal lobe and remote, with tumors in the non-dominant hemisphere. RESULTS: Post-to-pre-surgical distributions of activated voxels changed in all except the one patient with metastasis. Changes were more pronounced in the dominant hemisphere for all three groups, showing increased number of activated voxels and also new activation areas. Tumor resection in the dominant hemisphere (frontal and temporal) shifted the activation from frontal towards temporal, whereas tumor resection in the non-dominant hemisphere shifted the activation from temporal towards frontal dominant areas. CONCLUSION: Resection of gliomas in the dominant and in the non-dominant hemisphere induces postsurgical shifts and increase in language activation, indicating that infiltrating gliomas have a widespread influence on the language network. The dominant hemisphere gained most of the language activation irrespective of tumor localization, possibly reflecting recovery of pre-surgical tumor-induced suppression of these activations.

Functional hemispherectomy: postoperative motor state and correlation to preoperative DTI.

INTRODUCTION: Functional hemispherectomy (FH) is an infrequent method to reduce seizure frequency in patients with intractable epilepsy. The risk that hemispherotomy injures brain structures involved in residual motor function is challenging to predict. Our purpose was to evaluate MR diffusion tensor imaging (DTI) to preoperatively assess residual ipsilateral motor function prior to FH. METHODS: We applied DTI in 34 patients scheduled for FH to perform fiber tracking in healthy and damaged hemispheres of the corticospinal tracts (CSTs) and of the corpus callosum. We assessed the CSTs and the commissural fibers for streamline count, for fractional anisotropy (FA), and for respective ratios (affected/unaffected side). We correlated these DTI values to post-to-prior changes of muscle strength and evaluated their diagnostic accuracy. RESULTS: FA of the affected CSTs and of commissural fibers was significantly higher in patients with postoperative loss of muscle strength compared to patients without (p = 0.014 and p = 0.008). In contrast, CST FA from healthy hemispheres was not different between both groups. Ratios of streamline counts and FA from CSTs were higher in patients with postoperative reduced muscle strength compared to those without (1.14 ± 0.22 vs. 0.58 ± 0.14, p = 0.040; 0.93 ± 0.05 vs. 0.74 ± 0.03, p = 0.003). CSTs' normalized FA ratio greater than -0.085 predicted loss of muscle strength with 80 % sensitivity and 69.6 % specificity. CONCLUSION: Preoperative tracking of the CST and of commissural fibers contributes to the prediction of postoperative motor outcome after functional hemispherectomy.

Quantitative MR Imaging of Brain Tissue and Brain Pathologies.

Measurement of basic quantitative magnetic resonance (MR) parameters (e.g., relaxation times T1, T2*, T2 or respective rates R (1/T)) corrected for radiofrequency (RF) coil bias yields different conventional and new tissue contrasts as well as volumes for tissue segmentation. This approach also provides quantitative measures of microstructural and functional tissue changes. We herein demonstrate some prospects of quantitative MR imaging in neurological diagnostics and science.

Working memory performance of early MS patients correlates inversely with modularity increases in resting state functional connectivity networks.

Multiple sclerosis (MS) is an autoimmune inflammatory demyelinating and neurodegenerative disorder of the central nervous system characterized by multifocal white matter brain lesions leading to alterations in connectivity at the subcortical and cortical level. Graph theory, in combination with neuroimaging techniques, has been recently developed into a powerful tool to assess the large-scale structure of brain functional connectivity. Considering the structural damage present in the brain of MS patients, we hypothesized that the topological properties of resting-state functional networks of early MS patients would be re-arranged in order to limit the impact of disease expression. A standardized dual task (Paced Auditory Serial Addition Task simultaneously performed with a paper and pencil task) was administered to study the interactions between behavioral performance and functional network re-organization. We studied a group of 16 early MS patients (35.3±8.3 years, 11 females) and 20 healthy controls (29.9±7.0 years, 10 females) and found that brain resting-state networks of the MS patients displayed increased network modularity, i.e. diminished functional integration between separate functional modules. Modularity correlated negatively with dual task performance in the MS patients. Our results shed light on how localized anatomical connectivity damage can globally impact brain functional connectivity and how these alterations can impair behavioral performance. Finally, given the early stage of the MS patients included in this study, network modularity could be considered a promising biomarker for detection of earliest-stage brain network reorganization, and possibly of disease progression.

Metabolic changes in patients with aneurysmal subarachnoid hemorrhage apart from perfusion deficits: neuronal mitochondrial injury?

BACKGROUND AND PURPOSE: Neuronal damage in aSAH apart from perfusion deficits has been widely discussed. We aimed to test if cerebral injury occurs in aSAH independently from visible perfusion deficit by measuring cerebral metabolites in patients with aSAH without infarction or impaired perfusion. MATERIALS AND METHODS: We performed 3T MR imaging including (1)H-MR spectroscopy, DWI, and MR perfusion in 58 patients with aSAH and 11 age-matched and sex-matched control patients with incidental aneurysm. We compared changes of NAA, Cho, Glx, Lac, and Cr between all patients with aSAH and controls, between patients with and without visible perfusion deficit or infarction and controls, and between patients with and without visible perfusion deficit or infarction by using the Wilcoxon signed-rank test. RESULTS: We found that NAA significantly (P < .005) decreased in all patients with aSAH. Cho was significantly increased in all patients compared with controls (P < .05). In patients without impaired perfusion or infarction, Glx was significantly decreased compared with both controls (P = .005) and patients with impaired perfusion or infarction (P = .006). CONCLUSIONS: The significant decrease of NAA and Glx in patients with aSAH but without impaired perfusion or infarction strongly suggests global metabolic changes independent from visible perfusion deficits that might reflect neuronal mitochondrial injury. Further, impaired perfusion in aSAH seems to induce additional metabolic changes from increasing neuronal stress that might, to some extent, mask the global metabolic changes.

The U sign: tenth landmark to the central region on brain surface reformatted MR imaging.

BACKGROUND AND PURPOSE: Identification of the central region is of special importance to avoid neurologic deficits in brain surgery. Brain surface reformatted images (Mercator view) map the frontoparietal brain surface in 1 view and provide a synopsis of the most important landmarks. In this view, the U-shaped subcentral gyrus appears as a distinctive anatomic structure enclosing the Sylvian end of the central sulcus. The purpose of this study was to add the subcentral gyrus as a new landmark to the central region (U sign) and to compare its frequency and applicability with common landmarks in healthy hemispheres. MATERIALS AND METHODS: Mercator views of 178 hemispheres in 100 patients were generated from 3D MR imaging datasets. The hemispheres were evaluated on Mercator views for the presence or absence of each of the 9 common landmarks and the new U sign identifying the central region. RESULTS: The new landmark U sign was most common (96.6%), followed by the thin postcentral gyrus sign (95.5%). The least common landmark was the Ω-shaped handknob (54.5%). None of the landmarks could be identified in all hemispheres. All landmarks could be identified bilaterally in only 1.3% of patients. CONCLUSIONS: On the Mercator view, the new U sign is an applicable and even the most frequent landmark to identify the central region. Considering the variability of the anatomic structures of the brain, including the motor hand area, the synopsis of all 10 landmarks on this surface-reformatting projection is a helpful adjunct to standard MR imaging projections to identify the central region.

Age-related changes of cerebral autoregulation: new insights with quantitative T2'-mapping and pulsed arterial spin-labeling MR imaging.

BACKGROUND AND PURPOSE: Cerebral perfusion and O(2) metabolism are affected by physiologic age-related changes. High-resolution motion-corrected quantitative T2'-imaging and PASL were used to evaluate differences in deoxygenated hemoglobin and CBF of the gray matter between young and elderly healthy subjects. Further combined T2'-imaging and PASL were investigated breathing room air and 100% O(2) to evaluate age-related changes in cerebral autoregulation. MATERIALS AND METHODS: Twenty-two healthy volunteers 60-88 years of age were studied. Two scans of high-resolution motion-corrected T2'-imaging and PASL-MR imaging were obtained while subjects were either breathing room air or breathing 100% O(2). Manual and automated regions of interest were placed in the cerebral GM to extract values from the corresponding maps. Results were compared with those of a group of young healthy subjects previously scanned with the identical protocol as that used in the present study. RESULTS: There was a significant decrease of cortical CBF (P < .001) and cortical T2' values (P < .001) between young and elderly healthy subjects. In both groups, T2' remained unchanged under hyperoxia compared with normoxia. Only in the younger but not in the elderly group could a significant (P = .02) hyperoxic-induced decrease of the CBF be shown. CONCLUSIONS: T2'-mapping and PASL in the cerebral cortex of healthy subjects revealed a significant decrease of deoxygenated hemoglobin and of CBF with age. The constant deoxyHb level breathing 100% O(2) compared with normoxia in young and elderly GM suggests an age-appropriate cerebral autoregulation. At the younger age, hyperoxic-induced CBF decrease may protect the brain from hyperoxemia.