Biomedical subjects

Graeme Jackson

Publications and source records attributed to Graeme Jackson.

10 recordsLinked to original sources

PubMed2006

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

SCN1B, the gene encoding the sodium channel beta 1 subunit, was the first gene identified for generalized epilepsy with febrile seizures plus (GEFS+). Only three families have been published with SCN1B mutations. Here, we present four new families with SCN1B mutations and characterize the associated phenotypes. Analysis of SCN1B was performed on 402 individuals with various epilepsy syndromes. Four probands with missense mutations were identified. Detailed electroclinical phenotyping was performed on all available affected family members including quantitative MR imaging in those with temporal lobe epilepsy (TLE). Two new families with the original C121W SCN1B mutation were identified; novel mutations R85C and R85H were each found in one family. The following phenotypes occurred in the six families with SCN1B missense mutations: 22 febrile seizures, 20 febrile seizures plus, five TLE, three other GEFS+ phenotypes, two unclassified and ten unaffected individuals. All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free. We confirm the role of SCN1B in GEFS+ and show that the GEFS+ spectrum may include TLE alone. TLE with an SCN1B mutation is not a contraindication to epilepsy surgery.

Adolescent↗

PubMed2006

Human medullary responses to cooling and rewarming the skin: a functional MRI study.

A fall in skin temperature precipitates a repertoire of thermoregulatory responses that reduce the likelihood of a decrease in core temperature. Studies in animals suggest that medullary raphé neurons are essential for cold-defense, mediating both the cutaneous vasoconstrictor and thermogenic responses to ambient cooling; however, the involvement of raphé neurons in human thermoregulation has not been investigated. This study used functional MRI with an anatomically guided region of interest (ROI) approach to characterize changes in the blood oxygen level-dependent (BOLD) signal within the human medulla of nine normal subjects during non-noxious cooling and rewarming of the skin by a water-perfused body suit. An ROI covering 4.9 +/- 0.3 mm(2) in the ventral midline of the medulla immediately caudal to the pons (the rostral medullary raphé) showed an increase in BOLD signal of 3.9% (P < 0.01) during periods of skin cooling, compared with other times. Overall, that signal showed a strong inverse correlation (R = 0.48, P < 0.001) with skin temperature. A larger ROI covering the internal medullary cross section at the same level (area, 126 +/- 15 mm(2)) showed no significant change in mean BOLD signal with cooling (+0.2%, P > 0.05). These findings demonstrate that human rostral medullary raphé neurons are selectively activated in response to a thermoregulatory challenge and point to the location of thermoregulatory neurons homologous to those of the raphé pallidus nucleus in rodents.

Adult↗

PubMed2005

Mathematically gifted male adolescents activate a unique brain network during mental rotation.

Mental rotation involves the creation and manipulation of internal images, with the later being particularly useful cognitive capacities when applied to high-level mathematical thinking and reasoning. Many neuroimaging studies have demonstrated mental rotation to be mediated primarily by the parietal lobes, particularly on the right side. Here, we use fMRI to show for the first time that when performing 3-dimensional mental rotations, mathematically gifted male adolescents engage a qualitatively different brain network than those of average math ability, one that involves bilateral activation of the parietal lobes and frontal cortex, along with heightened activation of the anterior cingulate. Reliance on the processing characteristics of this uniquely bilateral system and the interplay of these anterior/posterior regions may be contributors to their mathematical precocity.

Adolescent↗

PubMed2004

Changes in effective connectivity models in the presence of task-correlated motion: an fMRI study.

We investigated the effects of motion-correction strategy and time course selection method when structural equation modeling is applied to fMRI data in the presence of task-correlated motion. Three motion-correction methods were employed for a group of 12 subjects performing an orthographic lexical retrieval task: (1) a rigid body realignment as implemented in SPM99, (2) a rigid body realignment combined with the inclusion of motion parameters in the statistical model, and (3) the FLIRT motion correction followed by an ICA analysis aiming to identify and remove the motion-related components and the ghosting artifacts. For each motion correction, the time courses of the activated regions were selected in three ways: (1) using the voxels with the highest Z scores, (2) using the average across all the statistically significant voxels in the region of interest, and (3) using a within-region, across-subjects, singular value decomposition. The resulting models of effective connectivity were markedly different, although the activation pattern was not substantially altered by the motion-correction method. Higher values for the path coefficients were obtained for the models fitted to the covariance matrices based on the average time courses than for the covariance matrices based on a single voxel time course. Our results suggest caution with the interpretation of task-induced changes in effective connectivity since, for higher-order cognitive brain functions, multiple models can be fitted to a given data set and these models cannot be rejected on an anatomical or cognitive basis. Hum. Brain Mapping 21:49-63, 2004.

Brain Mapping↗

PubMed2003

Neural correlates of the emergence of consciousness of thirst.

Thirst was induced by rapid i.v. infusion of hypertonic saline (0.51 M at 13.4 ml/min). Ten humans were neuroimaged by positron-emission tomography (PET) and four by functional MRI (fMRI). PET images were made 25 min after beginning infusion, when the sensation of thirst began to enter the stream of consciousness. The fMRI images were made when the maximum rate of increase of thirst occurred. The PET results showed regional cerebral blood flow changes similar to those delineated when thirst was maximal. These loci involved the phylogenetically ancient areas of the brain. fMRI showed activation in the anterior wall of the third ventricle, an area that is key in the genesis of thirst but is not an area revealed by PET imaging. Thus, this region plays as major a role in thirst for humans as for animals. Strong activations in the brain with fMRI included the anterior cingulate, parahippocampal gyrus, inferior and middle frontal gyri, insula, and cerebellum. When the subjects drank water to satiation, thirst declined immediately to baseline. A precipitate decline in intensity of activation signal occurred in the anterior cingulate area (Brodmann area 32) putatively related to consciousness of thirst. The intensity of activation in the anterior wall of the third ventricle was essentially unchanged, which is consistent with the fact that a significant time (15-20 min) would be needed before plasma Na concentration changed as a result of water absorption from the gut.

Adult↗

PubMed2003

Head position modulates activity in the human parietal eye fields.

For us to interact with our environment we need to know where objects are around us, relative to our body. In monkeys, a body-centered map of visual space is known to exist within the parietal eye fields. This map is formed by the modulation of retinal responses by gain fields to gaze position. In humans, no map of body-centered space has yet been discovered but clinical data suggest that the right parietal lobe is predominantly responsible for visuospatial function. Using functional MRI, we have been able to demonstrate that an area in the intraparietal sulcus of humans has properties very similar to the parietal eye fields of monkeys. This area demonstrates BOLD signal changes related to the visual, saccadic, and memory components of saccade tasks that are analogous to the visual, saccadic, and memory responses of neurons within the parietal eye fields of monkeys. More importantly, the amount of signal change seen in this region is modulated by head position relative to the body, suggesting that a gain field dependent body-centered representation of space exists bilaterally within the parietal lobes in humans.

Adult↗

PubMed2003

Evaluating subject specific preprocessing choices in multisubject fMRI data sets using data-driven performance metrics.

This study investigated the possible benefit of subject specific optimization of preprocessing strategies in functional magnetic resonance imaging (fMRI) experiments. The optimization was performed using the data-driven performance metrics developed recently [Neuroimage 15 (2002), 747]. We applied numerous preprocessing strategies and a multivariate statistical analysis to each of the 20 subjects in our two example fMRI data sets. We found that the optimal preprocessing strategy varied, in general, from subject to subject. For example, in one data set, optimum smoothing levels varied from 16 mm (4 subjects), 10 mm (5 subjects), to no smoothing at all (1 subject). This strongly suggests that group-specific preprocessing schemes may not give optimum results. For both studies, optimizing the preprocessing for each subject resulted in an increased number of suprathresholded voxels in within-subject analyses. Furthermore, we demonstrated that we were able to aggregate the optimized data with a random effects group analysis, resulting in improved sensitivity in one study and the detection of interesting, previously undetected results in the other.

Adult↗

PubMed2002

Quality assurance and radiofrequency heating.

This paper proposes an inexpensive means of assessing radiofrequency (RF) power deposition in a magnet. This is particularly important at 3T where sequences approach Food and Drug Administration approved RF limits. It will also be of interest to operators at 1.5 T as part of their ongoing quality assurance programs. At 3T, we found that the RF power deposited in the magnet was less than that read by the MR power monitor.

Electromagnetic Phenomena↗

PubMed2002

Mixed lateralization of phonological assembly in developmental dyslexia.

Developmental phonological dyslexia has been characterized as a deficit in phonological assembly. At a neural level, it is possible that this deficit is represented by weak connectivity between anterior and posterior language systems in the left hemisphere. This study used 3-Tesla functional magnetic resonance imaging to investigate phonological assembly in a developmental phonological dyslexic. The phonological dyslexic showed increased activation in the left hemisphere of the inferior frontal gyrus (BA 44/6) and increased activation in the right hemisphere of the parietal cortex (BA 7), occipital cortex (BA 18), and in the cerebellum, as phonological demands were systematically increased. Converging evidence suggests that the core dysfunction in phonological dyslexia resides in and around the angular gyrus of the left hemisphere. This study supports the compensatory role of posterior regions in the right hemisphere together with the left inferior frontal gyrus.

Adult↗

PubMed2002

Differential functional magnetic resonance imaging language activation in twins discordant for a left frontal tumor.

Eight-year-old twins, one with a left frontal tumor and aphasic seizures, the other neurologically normal, underwent serial assessment of expressive language with functional magnetic resonance imaging and neuropsychology. The affected twin showed a significant amount of right hemisphere activation coincident with behavioral deterioration in expressive language and late growth in the tumor. This pattern of language dysfunction and the left language dominance of her co-twin suggested that the affected twin was also left dominant for language, and the significance of her right activation is discussed. We postulate that the right hemisphere activation represents a stabilizing mechanism in the context of a developmental and progressive lesion in language cortex rather than language transfer per se.

Brain Neoplasms↗