Search

In this paper we report the effect of a combined transcranial direct current stimulation (tDCS) and speech language therapy on linguistic deficits following left brain damage in a stroke case. We show that simultaneous electrical excitatory stimulation to the left and inhibitory stimulation to the right parietal regions (dual-tDCS) affected writing and reading rehabilitation, enhancing speech therapy outcomes. The results of a comparison with healthy controls showed that application of dual-tDCS could improve, in particular, sub-lexical transcoding and, specifically, the reading of non-words with increasing length and complexity. Positive repercussions on patient's quality of functional communication were also ascertained. Significant changes were also found in other language and cognitive tasks not directly treated (comprehension and constructive apraxia). [ABSTRACT FROM AUTHOR]

Anorexia nervosa (AN) is a severe psychiatric disorder characterized by extreme underweight. Studies conducted with structural MRI found reductions in brain volumes in several areas, but results are mixed. Cortical thickness has shown in other samples specific correlations with BMI in different BMI ranges. In this study, we applied a well validated procedure implemented in Freesurfer software toolkit to investigate cortical thickness in a sample of 21 patients with AN and 18 healthy controls, focusing on group differences and on the relationship between BMI and cortical thickness. Cortical thickness was reduced in patients with AN, but group differences did not survive correction for multiple comparisons. The relationship between BMI and cortical thickness was significantly different in patients with AN compared to controls in the left superior parietal/occipital cortex and left post central cortex. These findings suggest that the relationship between cortical thickness and BMI in patients with AN with less than two years of illness duration significantly differs from that in controls and possible biological mechanisms that may explain this relationship are discussed. [ABSTRACT FROM AUTHOR]

Aims Alexithymia is a personality trait that consists of difficulty in identifying and acknowledging one's own and others' feelings. Recent studies reported that alexithymia is present in both anorexia ( AN) and bulimia nervosa ( BN). Brain morphological studies on healthy subjects showed that alexithymia correlates with several brain regions involved in emotions processing. The aim of this study was to investigate the anatomical correlates of alexithymia in AN and BN. Methods We performed a voxel-based morphometry study on 21 patients with AN and 18 with BN. Seventeen healthy subjects were used as a control group. Alexithymia, depression and anxiety were assessed with self-administered questionnaires and correlated to gray matter ( GM) density in each group. Results In BN, alexithymia was correlated with the GM of the parietal lobe, in particular of the right angular gyrus. The correlation was predominantly linked with Difficulty Describing Feelings. In AN, we did not find correlations between GM and alexithymia. Conclusions In BN, our results support the hypothesis that this trait may represent a relevant pathogenic or maintenance factor that contributes to relational difficulties, present in this pathology. In AN, the lack of correlation between GM volume and alexithymia may be influenced by atrophy in several brain regions that in turn can be, as previously reported, a consequence of caloric restriction. Also, the nature of alexithymia may be different from that of BN and controls and this trait could be secondary to a psychopathologic process specific to AN. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate whether Transcranial Magnetic Stimulation (TMS) applied over the medial line of the scalp affects the subjective perception of continuous pain induced by means of electric stimulation. In addition, we wanted to identify the point of stimulation where this effect was maximum. Methods: Superficial electrical stimulation was used to induce continuous pain on the dominant hand. At the beginning of the experiment we reached a pain rating of 5 on an 11-point numeric rating scale (NRS; 0 = no pain and 10 = maximum tolerable pain) for each subject by setting individually the current intensity. The TMS (five pulses at increasing intensities) was applied on 5 equidistant points (one per session) over the medial line of the scalp in 13 healthy volunteers using a double-cone coil to stimulate underlying parts of the brain cortex. In every experimental session the painful stimulation lasted 45 minutes, during which pain and distress intensities NRS were recorded continuously. We calculated the effect of adaptation and the immediate effect of the TMS stimulation for all locations. Additionally, an ALE (Activation Likelihood Estimation) meta-analysis was performed to compare our results with the neuroimaging literature on subjective pain rating. Results: TMS stimulation temporarily decreased the pain ratings, and pain adaptation was suppressed when applying the TMS over the FCz site on the scalp. No effect was found for distress ratings. Conclusions: The present data suggest that the medial cortex in proximity of the cingulated gyrus has a causal role in adaptation mechanisms and in processing ongoing pain and subjective sensation of pain intensity. [ABSTRACT FROM AUTHOR]

Background: Hereditary ataxias are a heterogeneous group of neurodegenerative disorders, where exome sequencing may become an important diagnostic tool to solve clinically or genetically complex cases. Methods: We describe an Italian family in which three sisters were affected by ataxia with postural/intentional myoclonus and involuntary movements at onset, which persisted during the disease. Oculomotor apraxia was absent. Clinical and genetic data did not allow us to exclude autosomal dominant or recessive inheritance and suggest a disease gene. Results: Exome sequencing identified a homozygous c.6292C > T (p.Arg2098*) mutation in SETX and a heterozygous c.346G > A (p.Gly116Arg) mutation in AFG3L2 shared by all three affected individuals. A fourth sister (II.7) had subclinical myoclonic jerks at proximal upper limbs and perioral district, confirmed by electrophysiology, and carried the p.Gly116Arg change. Three siblings were healthy. Pathogenicity prediction and a yeast-functional assay suggested p.Gly116Arg impaired m-AAA (ATPases associated with various cellular activities) complex function. Conclusions: Exome sequencing is a powerful tool in identifying disease genes. We identified an atypical form of Ataxia with Oculoapraxia type 2 (AOA2) with myoclonus at onset associated with the c.6292C > T (p.Arg2098*) homozygous mutation. Because the same genotype was described in six cases from a Tunisian family with a typical AOA2 without myoclonus, we speculate this latter feature is associated with a second mutated gene, namely AFG3L2 (p.Gly116Arg variant). We suggest that variant phenotypes may be due to the combined effect of different mutated genes associated to ataxia or related disorders, that will become more apparent as the costs of exome sequencing progressively will reduce, amplifying its diagnostics use, and meanwhile proposing significant challenges in the interpretation of the data. [ABSTRACT FROM AUTHOR]

Objective: anorexia Nervosa (AN) is a multi-factorial disorder (sociological, psychological and biological), but we can use two important tools to better understand its psychopathology: attachment theory and modern neuroimaging techniques. In this study, we looked for the anatomical and functional correlates of the attachment system in both young women with AN and healthy controls. Method: we enrolled 18 participants - 10 patients with AN and 8 controls. the adult attachment interview (AAI) was administered to all participants to assess their state of mind with respect to attachment. All participants also underwent an MRI scan (T1 weighted high resolution anatomical images and BOLD resting state fMRI). We analyzed MRI data using voxel Based morphometry and voxel-wise resting state measures (standard deviation and amplitude of low-frequency fluctuations of the timecourse). Results: in our study, secure attachment was more common in controls than in AN patients. some subscales of AAI were found to be significantly different between the groups: pressure to achieve exerted by the mother was higher in AN than in controls while the scores in both coherence of mind (com) and coherence of transcript (cot) scales were significantly lower. CoM and CoT positively correlated with the volume of grey matter (GM) in a network of brain areas comprising the temporal poles, both amygdalae, the midbrain, the thalamus and the anterior and middle sections of cingulate cortex. The scale measuring the love received by the mother correlated with a network largely overlapping with com/cot, while anger anticorrelated with parts of the same network (for instance, the precuneus and part of the limbic system). Higher passivity correlated with lower GM volumes in a network comprising mostly mesial areas such as the precuneus. Conclusions: It seems therefore that the experience of love during childhood and the feeling of anger towards the caregivers expressed during the interview have opposite effects on brain areas: while the experience of love seems to be a protective factor, anger is correlated with lower GM volume. We conclude that non-secure attachment is a core feature of anorexia nervosa both at psychopathological and neurobiological levels. [ABSTRACT FROM AUTHOR]

Abstract: Recent studies focussing on neuroimaging features of eating disorders have observed that anorexia nervosa (AN) is characterized by significant grey matter (GM) atrophy in many brain regions, especially in the cerebellum and anterior cingulate cortex. To date, no studies have found GM atrophy in bulimia nervosa (BN) or have directly compared patients with AN and BN. We used voxel-based morphometry (VBM) to characterize brain abnormalities in AN and BN patients, comparing them with each other and with a control group, and correlating brain volume with clinical features. We recruited 17 AN, 13 BN and 14 healthy controls. All subjects underwent high-resolution magnetic resonance imaging (MRI) with a T1-weighted 3D image. VBM analysis was carried out with the FSL-VBM 4.1 tool. We found no global atrophy, but regional GM reduction in AN with respect to controls and BN in the cerebellum, fusiform area, supplementary motor area, and occipital cortex, and in the caudate in BN compared to AN and controls. Both groups of patients had a volumetric increase bilaterally in somatosensory regions with respect to controls, in areas that are typically involved in the sensory-motor integration of body stimuli and in mental representation of the body image. Our VBM study documented, for the first time in BN patients, the presence of volumetric alterations and replicated previous findings in AN patients. We evidenced morphological differences between AN and BN, demonstrating in the latter atrophy of the caudate nucleus, a region involved in reward mechanisms and processes of self-regulation, perhaps involved in the genesis of the binge-eating behaviors of this disorder. [Copyright &y& Elsevier]

Patients with cerebellar lesions present some affective and cognitive disorders, defining a peculiar pattern of cognitive impairment, so-called cerebellar cognitive affective syndrome. This pattern has been confirmed in many genotypes of spinocerebellar ataxias (SCA), a group of genetically defined pathologies characterized by the degeneration of the cerebellum and its connections. Recently, in SCA patients, some authors focused the interest on social cognition evidencing an impairment of theory of mind and basic emotion recognition by verbal material. The recognition of emotions in faces is an essential component of social cognition; therefore, we assessed this ability in SCA patients, expanding the study from the basic verbal emotions to the basic and social visual emotion recognition. We assessed facial emotion recognition using two basic and social emotion tasks in a group of SCA patients together with a complete clinical and neuropsychological evaluation. We compared results with the performance of a control group. We demonstrated a significant difference between patients and controls both in basic and social emotion recognition, although we found a specific impairment only for social emotions. The deficit was not correlated to clinical and demographic features. The cognitive and psychological profile did not explain the impairment in emotion recognition. This result supports the hypothesis that the impairment in social emotion recognition could be specifically related to a defect in the corticocerebellar network. [ABSTRACT FROM AUTHOR]

Spinocerebellar ataxias type 2 (SCA2) is a rare genetic disorder characterised by the degeneration of the Cerebellum, its connections and many Brainstem areas. A voxel-based morphometry (VBM) analysis was performed on 12 genetically determined SCA2 patients and 31 controls, normalising the brains with two different atlases: one was created in-house with DARTEL (a diffeomorphic registration method) and the other was SUIT (an exclusive Cerebellum atlas). We administered two versions of a popular executive/planning functions test: the Tower of London, in the traditional and in a computerised version that does not require the use of hands, to correlate the regional atrophy with the tests' performances and to discover the different associations of Cerebellum's areas to cognitive dysfunctions. SCA2 showed a diffuse infratentorial atrophy with the whole Cerebellum and Brainstem affected, the overall patterns were highly overlapping between atlases with some minor differences. The DARTEL VBM also allowed detecting two sovratentorial clusters of atrophy, one in the left Inferior Parietal Lobule and the other in the Corticospinal Tracts. Additional analyses revealed a partial involvement of many White Matter tracts and of the Thalamus in the pathology. The classical Tower of London version correlated maximally with the right Lobule IV-V, when the computerised version correlated with the right Crus 1. The correlations of different versions of the test suggested a dissociation between the dysfunctions in SCA2: the Posterior Cerebellum was linked to the executive dysfunction while the Anterior Cerebellum was linked to the coordinative dysfunction. [ABSTRACT FROM AUTHOR]

We administered a large battery of neuropsychological tests to an heterogeneous cohort of genetically defined spinocerebellar ataxia (SCA) patients in order to assess their cognitive profile and to compare cognitive impairment among different SCA genotypes, particularly between SCA with the classical pattern of olivo-ponto-cerebellar atrophy (SCA1 and SCA2) and those with a relatively 'pure' olivo-cerebellar atrophy (SCA6 and SCA8). Our data revealed a neuropsychological picture characterized by fronto-parietal involvement with mnestic, linguistic, visuospatial, attentional, executive, and mood changes, in agreement with the cerebellar cognitive affective syndrome definition. We found a homogeneous neuropsychological profile among SCA subgroups with a prominent role of frontal dysfunction-particularly, attention, memory, and executive functions. We analyzed the possible interactions between neuropsychological pattern and clinical, demographical, and genetic variables. We found the presence of a cognitive impairment at the early stages of the disease, without visuospatial alterations, which appeared later. Age and education represented the most important demographic factors to predict the neuropsychological performance in SCA and in controls, but their effect in patients had definitely more impact. In our sample education could represent a protective factor and a marker of an enriched environment or a better developmental cognitive differentiation. We demonstrated that in our patients there was a distinct subgroup of high functional subjects and that triplet repeats modulated the effect of aging on cognition and progression of motor disability. [ABSTRACT FROM AUTHOR]

Cerebellar agenesis is a rare disorder. We present the neurological and neuropsychological features of a patient with partial cerebellar agenesis (TZ), together with SPECT perfusion and fMRI activation during a finger tapping task. TZ shows only mild cerebellar signs, while neuropsychological testing discloses severe deficits in many domains, in accordance with the theorized role of the cerebellum in cognition. FMRI and SPECT demonstrate an activation and a symmetrical perfusion of the cerebellar remnants, that can be related to the residual cerebellar motor function. The left frontal and parieto-temporal cortex hypoperfusion can explain the severe cognitive impairment and could be linked to the abnormal cerebellar development. [ABSTRACT FROM AUTHOR]

Presents a study that examined the correlation between neurophysiological functioning and the degree of pathology for food style, body image and physical state in patients with anorexia nervosa. Evaluation of the eating disorder of the patients; Analysis of the neurophysiological functioning of the patients; Correlation between neurophysiological functions and the eating disorder state.