Whole-brain multimodal MRI phenotyping of periventricular nodular heterotopia (original) (raw)
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Integration of gray matter nodules into functional cortical circuits in periventricular heterotopia
Epilepsy & Behavior, 2013
Alterations in neuronal circuitry are recognized as an important substrate of many neurological disorders, including epilepsy. Patients with the developmental brain malformation of periventricular nodular heterotopia (PNH) often have both seizures and dyslexia, and there is evidence to suggest that aberrant neuronal connectivity underlies both of these clinical features. We used task-based functional MRI (fMRI) to determine whether heterotopic nodules of gray matter in this condition are integrated into functional cortical circuits. Blood oxygenation level-dependent (BOLD) fMRI was acquired in eight participants with PNH during the performance of readingrelated tasks. Evidence of neural activation within heterotopic gray matter was identified, and regions of cortical coactivation were then mapped systematically. Findings were correlated with resting-state functional connectivity results and with performance on the fMRI reading-related tasks. Six participants (75%) demonstrated activation within at least one region of gray matter heterotopia. Cortical areas directly overlying the heterotopia were usually coactivated (60%), as were areas known to have functional connectivity to the heterotopia in the task-free resting state (73%). Six of seven (86%) primary task contrasts resulted in heterotopia activation in at least one participant. Activation was most commonly seen during rapid naming of visual stimuli, a characteristic impairment in this patient population. Our findings represent a systematic demonstration that heterotopic gray matter can be metabolically coactivated in a neuronal migration disorder associated with epilepsy and dyslexia. Gray matter nodules were most commonly coactivated with the anatomically overlying cortex and other regions with resting-state connectivity to heterotopia. These results have broader implications for understanding the network pathogenesis of both seizures and reading disabilities.
Epilepsy & Behavior, 2010
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development associated with epilepsy. It is unclear whether the epileptogenic focus is the nodule, overlying cortex, or both. We performed electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) in a patient with bilateral PVNH, capturing 45 "left temporal" epileptiform discharges. The relative time at which fMRI-involved regions became active was assessed. Additionally, nodule-cortex interactions were explored using fMRI functional connectivity. There was EEG-fMRI activity in specific periventricular nodules and overlying cortex in the left temporoparietal region. In both nodules and cortex, the peak BOLD response to epileptiform events occurred earlier than expected from standard fMRI hemodynamic modeling. Functional connectivity showed nodulecortex interactions to be strong in this region, even when the influence of fMRI activity fluctuations due to spiking was removed. Nonepileptogenic, contralateral nodules did not show connectivity with overlying cortex. EEG-fMRI and functional connectivity can help identify which of the multiple abnormal regions are epileptogenic in PVNH.
Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia
Epilepsy Research, 2015
the anterior-posterior position of corpus callosum changes and PVNH nodules. Reduced corpus callosum area is strongly associated with PVNH, and is probably associated with abnormal brain development in this neurological disorder. The primarily posterior corpus callosum changes may inform our understanding of the etiology of PVNH. Our results suggest that interhemispheric pathways are affected in PVNH.
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia
Neurology, 2006
To define the behavioral profile of periventricular nodular heterotopia (PNH), a malformation of cortical development that is associated with seizures but reportedly normal intelligence, and to correlate the results with anatomic and clinical features of this disorder. Methods: Ten consecutive subjects with PNH, all with epilepsy and at least two periventricular nodules, were studied with structural MRI and neuropsychological testing. Behavioral results were statistically analyzed for correlation with other features of PNH. Results: Eight of 10 subjects had deficits in reading skills despite normal intelligence. Processing speed and executive function were also impaired in some subjects. More marked reading difficulties were seen in subjects with more widely distributed heterotopia. There was no correlation between reading skills and epilepsy severity or antiepileptic medication use. Conclusion: The neuronal migration disorder of periventricular nodular heterotopia is associated with an impairment in reading skills despite the presence of normal intelligence.
Periventricular Heterotopia and the Genetics of Neuronal Migration in the Cerebral Cortex
The American Journal of Human Genetics, 1999
In recent years, remarkable contributions to our understanding of how the brain develops have come from the field of genetics. The study of brain development is important, not only to further our understanding of this complex phenomenon, but because gross brain malformations are now recognized to cause significant proportions of cognitive and neurologic disorders. When the cerebral cortex fails to form properly, the result is often severe mental retardation. Even mild dysgenesis of the cortex is frequently associated with epilepsy. Modern genetics affords us the opportunity to explain these developmental mishaps at a molecular level and provides critical insight into nature's program for brain development, adding an important new dimension to the extensive neuroanatomic work of the last 100 years. Neurons that populate the adult cortex are not born in place. Instead, they are born deep within the brain, in the germinal layer of the ventricular zone, which develops from the lining of the lumen of the neural tube. To get to their proper adult location, most cerebral cortical neurons migrate hundreds to thousands of cell body lengths along tracks of radially oriented glial cells, which stretch from the ventricular zone to the outer, pial surface. These cortical neurons migrate in waves to build layers in the cortex, with each successive wave migrating past earlier-born neurons to add a more superficial layer (fig. 1A). This migration pattern is referred to as "inside out" and must be faithfully executed for the adult cortex to form and function properly. When migration is complete, the cortex is a six-layered structure (fig. 1B), with each layer comprising different types of neurons that form discrete connections within the CNS and perform distinct functions.
Neurosurgical Focus
The object of this study was to extensively characterize a region of periventricular nodular heterotopia (PVNH) in an epilepsy patient to reveal its possible neurocognitive functional role(s). The authors used 3-T MRI approaches to exhaustively characterize a single, right hemisphere heterotopion in a high-functioning adult male with medically responsive epilepsy, which had manifested during late adolescence. The heterotopion proved to be spectroscopically consistent with a cortical-like composition and was interconnected with nearby ipsilateral cortical fundi, as revealed by fiber tractography (diffusion-weighted imaging) and resting-state functional connectivity MRI (rsfMRI). Moreover, the region of PVNH demonstrated two novel characterizations for a heterotopion. First, functional MRI (fMRI), as distinct from rsfMRI, showed that the heterotopion was significantly modulated while the patient watched animated video scenes of biological motion (i.e., cartoons). Second, rsfMRI, which...
Abnormal structural and functional brain connectivity in gray matter heterotopia
Epilepsia, 2012
Purpose-Periventricular nodular heterotopia (PNH) is a malformation of cortical development associated with epilepsy and dyslexia. Evidence suggests that heterotopic gray matter can be functional in brain malformations and that connectivity abnormalities may be important in these disorders. We hypothesized that nodular heterotopia develop abnormal connections and systematically investigated the structural and functional connectivity of heterotopia in patients with PNH.
Neuroimaging characteristics of pseudosubcortical laminar heterotopia
Journal of neuroimaging : official journal of the American Society of Neuroimaging, 2002
Subcortical laminar heterotopia (SLH) is a subtype of malformation of cortical development characterized by laminar gray matter between the cortex and ventricles, which can vary in thickness and may be continuous or discontinuous. The objective of this study is to describe a normal finding of high-resolution magnetic resonance imaging that may simulate an SLH. SLH is isointense to cortex on both T1- and T2-weighted/FLAIR images, usually both anteriorly and posteriorly in location. Conversely, pseudo-SLH is a normal variant present only at the posterior aspect of the brain, and with dark signal on both T1- and T2-weighted/FLAIR images.