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We describe the clinical findings and MRI features observed in a child who presented a two-step disease course: he was hypotonic at birth and soon afterwards developed seizures, which were partially responsive to treatment; he subsequently showed developmental delay and a progressive neurological deterioration with the onset of severe seizures at around three years of age. Head MRI at age 20 days was unremarkable, whereas at 25 months it showed bilateral hyperintensity of the deep cerebellar nuclei; five months later, the signal hyperintensity was also present in the cerebellar white matter and ventral pontine fibre tracts. Molecular analysis revealed a novel ACOX1 mutation, predicting a largely truncated protein. The white matter involvement, which followed an ascending trajectory from cerebellar and brainstem structures to the cerebral hemispheres, seemed to originate from the perinuclear white matter of the deep cerebellar nuclei. [ABSTRACT FROM AUTHOR]

Background: Hippocampal shrinkage is commonly reported in schizophrenia, but its role in the illness is still poorly understood. In particular, it is unclear how clinical and psychosocial variables relate to hippocampal volumes.Aims: To investigate neuroanatomic differences in the hippocampus using three-dimensional (3D) computational image analysis.Method: We used high-resolution magnetic resonance imaging and surface-based modelling to map the 3D profile of hippocampal differences in adults with schizophrenia (n = 67) and a healthy control group (n = 72). Manual tracings were used to create 3D parametric mesh models of the hippocampus. Regression models were used to relate diagnostic measures to maps of radial distance, and colour-coded maps were generated to show the profile of associations.Results: There was no detectable difference between the schizophrenia and control groups in hippocampal radial distance. In the schizophrenia group, however, bilateral shape deflation was associated with greater illness severity (length of illness, positive and negative symptoms) and with poorer social functioning (educational level, quality of life and health status), which survived Bonferroni correction.Conclusions: Illness severity and poor social functioning may be associated with hippocampal deflation in schizophrenia. As a structural sign of poor outcome, imaging measures might help to identify a subgroup of patients who may need specific treatment to resist hippocampal shrinkage, such as cognitive rehabilitation or physical exercise. [ABSTRACT FROM AUTHOR]

The aim of the present study was to compare the EEG signal recorded outside and inside a 1.5T magnetic resonance (MR) scanner. The EEG was recorded in eyes open and eyes closed conditions using a digital recording MR-compatible system. To characterize how a static magnetic field induces changes in EEG signal, EEG data were analyzed using FFT frequency analysis. No significant difference between the alpha powers recorded outside and inside the magnetic field was observed in eyes closed conditions. However, in eyes open condition there was a significant increase in alpha power inside the magnet in comparison to the outside position. The changes in alpha power according to the eyes open/closed conditions could be inversely correlated to a subject's state of wakefulness and due to some physiological changes, rather than an effect of the magnetic field. This experiment suggests that subjects' state of wakefulness is of prime concern when performing functional MRI. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Several magnetic resonance imaging (MRI) and postmortem studies have supported the role of the thalamus in the pathophysiology of schizophrenia. Interestingly, a recent small diffusion weighted imaging (DWI) study showed abnormal thalamic microstructure in patients with schizophrenia. The objective of our study was to use structural MRI and DWI to explore for the first time both thalamic volumes and integrity in schizophrenia. METHODS: We measured thalamic volumes and apparent diffusion coefficient (ADC) measures bilaterally in 71 patients with schizophrenia, representative of those living in the geographically defined catchment area of South Verona (i.e., 100 000 inhabitants), and 75 individuals without schizophrenia. The presence of the adhesio interthalamica was also detected. RESULTS: We found no significant differences in thalamus size between patients with schizophrenia and participants in the control group, with only a trend for decreased left volumes. No abnormal frequency of the adhesio interthalamica was found. In contrast, significantly increased thalamic ADC values were shown in schizophrenia patients. Age significantly inversely correlated with thalamic volumes in both groups and correlated positively with posterior ADCs in patients with schizophrenia. No significant associations between clinical variables and either volumes or ADC values were reported. CONCLUSION: Widespread altered microstructure integrity and partially preserved thalamus size were found in schizophrenia patients. Therefore, subtle thalamic structural abnormalities are present in schizophrenia, even with maintained volumes. This may result from disruption at the cytoarchitecture level, ultimately supporting corticothalamic misconnection. Future imaging studies should further explore thalamic tissue coherence and its role for cognitive disturbances in patients at high risk for schizophrenia and in first-degree relatives. [ABSTRACT FROM AUTHOR]

We used continuous electroencephalography-functional magnetic resonance imaging (EEG-fMRI) to identify the linkage between the "epileptogenic" and the "irritative" area in a patient with symptomatic epilepsy (cavernoma, previously diagnosed and surgically treated), i.e. a patient with a well known "epileptogenic area" and to increase the possibility of a non invasive pre-surgical evaluation of drug-resistant epilepsies. A compatible MRI system was used (EEG with 29 scalp electrodes and two electrodes for ECG and EMG) and signals were recorded with a 1.5 Tesla MRI scanner. After the recording session and MRI artifact removal, EEG data were analyzed offline and used as paradigms in fMRI study. Activation (EEG sequences with interictal slow-spiked-wave activity) and rest (sequences of normal EEG) conditions were compared to identify the potential resulting focal increase in BOLD signal and to consider if this is spatially linked to the interictal focus used as a paradigm and to the lesion. We noted an increase in the BOLD signal in the left neocortical temporal region, laterally and posteriorly to the poro-encephalic cavity (residual of cavernoma previously removed), that is around the "epileptogenic area" In our study "epileptogenic" and "irritative" areas were connected with each other. Combined EEG-fMRI may become routine in clinical practice for a better identification of an irritative and lesional focus in patients with symptomatic drug-resistant epilepsy. [ABSTRACT FROM AUTHOR]

Background: Several, although not all, of the previous small diffusion-weighted imaging (DWI) studies have shown cortical white-matter disruption in schizophrenia.Aims: To investigate cortical white-matter microstructure with DWI in a large community-based sample of people with schizophrenia.Method: Sixty-eight people with schizophrenia and 64 healthy controls underwent a session of DWI to obtain the apparent diffusion coefficient (ADC) of white-matter water molecules. Regions of interest were placed in cortical lobes.Results: Compared with controls, the schizophrenia group had significantly greater ADCs in frontal, temporal and occipital white matter (analysis of covariance, P < 0.05).Conclusions: Our findings confirm the presence of cortical white-matter microstructure disruption in frontal and temporo-occipital lobes in the largest sample of people with schizophrenia thus for studied with this technique. Future brain imaging studies, together with genetic investigations, should further explore white-matter integrity and genes encoding myelin-related protein expression in people with first-episode schizophrenia and those at high risk of developing the disorder. [ABSTRACT FROM AUTHOR]

In a patient affected with a slowly progressive, severe form of Dejerine-Sottas syndrome, symmetric enlargement of cranial nerves and focal hypertrophy of cervical and caudal roots were detected following MRI. Neuropathological features of the sural nerve disclosed a dramatic loss of myelinated fibres, with skewed-to-the-left, unimodal distribution of the few residual fibres, consistent with the diagnosis of congenital hypomyelination neuropathy. Genetic analysis revealed this condition to be associated with a heterozygous G to A transition at codon 167 in the exon 4 of the MPZ/P0 gene causing a Gly138Arg substitution in the transmembrane domain of the mature MPZ/P0 protein. Focal enlargement of the nerve trunks in demyelinating, hereditary motor and sensory neuropathies (HMSN) was previously reported in both asymptomatic and symptomatic cases with root compression, but peculiar to this case is the diffuse involvement of both cranial and spinal nerves. We believe that the relevance of nerve trunk hypertrophy in HMSN is probably underevaluated: therefore MRI investigation of the head and spine should be included in the diagnostic study of selected HMSN patients. Molecular analysis of peripheral myelin genes will help to rule out misdiagnosed cases. [ABSTRACT FROM AUTHOR]

Objective: The objective of the study was to compare the cerebral distribution of white matter lesions (WMLs) between migraine patients with different aura symptoms.Methods: Migraine with aura (MA) patients were consecutively enrolled as part of the Shunt-Associated Migraine (SAM) study. According to clinical symptoms, aura was classified as motor, aphasic, sensory, visual or vertebrobasilar. Standard and FLAIR (fluid attenuated inversion recovery) T2-weighted MRI sequences were inspected for WMLs by three independent raters blinded to clinical data. WMLs were assessed in the periventricular areas (PV-WMLs) with the Fazekas scale and in the deep white matter (D-WMLs) with the Schelten’s scale. Interobserver agreement was good to excellent (k = 0.64 to 0.96, p < .0001).Results: One hundred and eighty-five patients (77% women) were included. Aura symptoms were classified as visual in 172 (99%) patients, sensory in 76 (42%), aphasic in 54 (30%), motor in 39 (21%) and vertebrobasilar in 17 (9%) patients. One hundred and four patients (57%) exhibited more than one type of aura. D-WMLs were mainly detected in the frontal lobes (86%). There was no association between type of aura and the presence of WMLs in any cerebral location. Conclusion: Aura symptoms do not influence the cerebral distribution of WMLs associated with migraine disease. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: Previous imaging reports showed over-activation of fronto-limbic structures in bipolar patients, particularly in response to emotional stimuli. In this study, for the first time, we used perfusion weighted imaging (PWI) to analyze lobar cerebral blood volume (CBV) in bipolar disorder to further explore the vascular component to its pathophysiology. Methods: Fourteen patients with DSM-IV bipolar disorder (mean age±SD=49.00±12.30 years; 6 males, 8 females) and 29 normal controls (mean age±SD=45.07±10.30 years; 13 males, 16 females) were studied. PWI images were obtained following intravenous injection of paramagnetic contrast agent (Gadolinium-DTPA), with a 1.5 T Siemens magnet using an echo-planar sequence. The contrast of enhancement (CE), was calculated pixel by pixel as the ratio of the maximum signal intensity drop during the passage of contrast agent (Sm) by the baseline pre-bolus signal intensity (So) (CE=Sm/So⁎100) for frontal, temporal, parietal, and occipital lobes, bilaterally, on two axial images. Higher CE values correspond to lower CBV and viceversa. Results: Bipolar patients had significantly lower CE values in left frontal and temporal lobes (p =0.01 and p =0.03, respectively) and significantly inverse laterality index for frontal lobe (p =0.017) compared to normal controls. No significant correlations between CE measure and age or clinical variables were found (p >0.05). Conclusion: This study found increased left frontal and temporal CBV in bipolar disorder. Fronto-temporal hyper-perfusion may sustain over-activation of these structures during emotion modulation, which have been observed in patients with bipolar illness. [Copyright &y& Elsevier]

Introduction Vascular changes in the brain are relevant in schizophrenia [e.g. 1] and in bipolar disorder [2]. The study of first episode psychosis (FEP) allows the analysis of brain morphology and function without confounds due to chronicity. Objectives To characterize brain perfusion in FEP. Aims To see if FEP exhibit modified perfusion in respect to healthy controls (HC), and identify the most affected brain areas. Methods We acquired T1 and DSC images of 35 FEP patients (45 +/- 10 years old) and 35 HC (42 +/- 8), using Gadolinium (0.1 mmol/Kg). We computed cerebral blood volume (CBV), cerebral blood flow (CBF) and mean transit time (MTT) [3] in the whole brain and in left and right frontal, parietal, temporal and occipital lobes, insula, caudate and cerebellum Results Mean values of all quantities resulted lower in patients, up to 12% for CBV in right frontal lobe, 11% for CBF in left cerebellum and 16% for MTT in right frontal lobe. We used a support vector machine (SVM) to classify subjects on the basis of the histogram of perfusion values. We found that the classification reached accuracies over 80%, especially in the frontal brain areas. Conclusions FEP show altered perfusion parameters, which allow automatic classification with good accuracy, showing that brain vascular characteristics can be considered as marker of psychosis. [1] Peruzzo et al (2011). J Neural Transm, 118, 4:563-70. [2] Agarwal et al (2008). J Affect Disord, 110, 1-2:106-14. [3] Ostergaard et al (1996). Magn Reson Med, 36, 5:715-25. [ABSTRACT FROM AUTHOR]