Publications by authors named "Incerti L"

Purpose: Deep brain stimulation (DBS) of nucleus ventralis intermedius thalami (Vim) is a validated technique for the treatment of essential tremor (ET) in adults. Conversely, its use for post traumatic tremor (PTT) and in paediatric patients is still debated. We evaluated the efficacy of Vim-DBS for lesional tremor in three paediatric patients with drug-resistant post-traumatic unilateral tremor.

View Article and Find Full Text PDF

In the past 2 decades, several attempts have been made to promote a correct diagnosis and possible restorative interventions in patients suffering from disorders of consciousness. Sensory stimulation has been proved to be useful in sustaining the level of arousal/awareness and to improve behavioural responsiveness with a significant effect on oro-motor functions. Recently, action observation has been proposed as a stimulation strategy in patients with disorders of consciousness, based on neurophysiological evidence that the motor cortex can be activated not only during action execution but also when actions are merely observed in the absence of motor output, or during listening to action sounds and speech.

View Article and Find Full Text PDF

Protocadherin-19 (PCDH19) developmental and epileptic encephalopathy causes an early-onset epilepsy syndrome with limbic seizures, typically occurring in clusters and variably associated with intellectual disability and a range of psychiatric disorders including hyperactive, obsessive-compulsive and autistic features. Previous quantitative neuroimaging studies revealed abnormal cortical areas in the limbic formation (parahippocampal and fusiform gyri) and underlying white-matter fibers. In this study, we adopted morphometric, network-based and multivariate statistical methods to examine the cortex and substructure of the hippocampus and amygdala in a cohort of 20 PCDH19-mutated patients and evaluated the relation between structural patterns and clinical variables at individual level.

View Article and Find Full Text PDF

Background: Clinical trials suggest that long-chain omega-3 polyunsaturated fatty acids (n-3 PUFAs) (fish oil) may reduce depressive symptoms in adults with major depressive disorder. Therefore, n-3 PUFAs may be a potential treatment for depression in youth.

Methods: Participants were 15- to-25 year-old individuals with major depressive disorder who sought care in one of three government-funded mental health services for young people in metropolitan Melbourne, Perth, or Sydney, Australia.

View Article and Find Full Text PDF

Mutations of the voltage-gated sodium channel SCN1A gene (MIM#182389) are among the most clinically relevant epilepsy-related genetic mutations and present variable phenotypes, from the milder genetic epilepsy with febrile seizures plus to Dravet syndrome, a severe developmental and epileptic encephalopathy. Qualitative neuroimaging studies have identified malformations of cortical development in some patients and mild atrophic changes, partially confirmed by quantitative studies. Precise correlations between MRI findings and clinical variables have not been addressed.

View Article and Find Full Text PDF

Background: Myxoid glioneuronal tumor (MGT) is a benign glioneuronal neoplasm recently introduced in the World Health Organization (WHO) classification of the central nervous system (CNS) tumors. MGTs are typically located in the septum pellucidum, foramen of Monro or periventricular white matter of the lateral ventricle. They were previously diagnosed as dysembryoplastic neuroepithelial tumors (DNT), showing histological features almost indistinguishable from classical cortical DNT.

View Article and Find Full Text PDF

Aim: When studying brain networks in patients with Disorders of Consciousness (DoC), it is important to evaluate the structural integrity of networks in addition to their functional activity. Here, we investigated whether structural MRI, together with clinical variables, can be useful for diagnostic purposes and whether a quantitative analysis is feasible in a group of chronic DoC patients.

Methods: We studied 109 chronic patients with DoC and emerged from DoC with structural MRI: 65 in vegetative state/unresponsive wakefulness state (VS/UWS), 34 in minimally conscious state (MCS), and 10 with severe disability.

View Article and Find Full Text PDF

Background And Objectives: The gene, located at chromosome Xp11.23, encodes for a uridine diphosphate-galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of postoperative seizure and cognitive outcome in 47 patients with refractory epilepsy and brain somatic gene variants.

View Article and Find Full Text PDF

Background: Growth hormone deficiency (GHD) is the first and most common endocrine complication in pediatric brain tumor survivors (BTS). GHD can occur due to the presence of the tumor itself, surgery, or cranial radiotherapy (CRT).

Aims: This study aimed to evaluate management and adherence to current guidelines of the Italian centers engaged in the diagnosis and follow-up of GHD patients with BTS.

View Article and Find Full Text PDF

Resting-state fMRI (rs-fMRI) is a widely used technique to investigate the residual brain functions of patients with Disorders of Consciousness (DoC). Nonetheless, it is unclear how the networks that are more associated with primary functions, such as the sensory-motor, medial/lateral visual and auditory networks, contribute to clinical assessment. In this study, we examined the rs-fMRI lower-order networks alongside their structural MRI data to clarify the corresponding association with clinical assessment.

View Article and Find Full Text PDF

Magnetic Resonance-guided high-intensity Focused Ultrasound (MRgFUS) of the thalamic ventral intermediate nucleus (Vim) for tremor has increasingly gained interest as a new non-invasive alternative to standard neurosurgery. Resting state functional connectivity (rs-FC) correlates of MRgFUS have not been extensively investigated yet. A region of interest (ROI)-to-ROI rs-FC MRI "connectomic" analysis focusing on brain regions relevant for tremor was conducted on 15 tremor-dominant patients with Parkinson's disease who underwent MRgFUS.

View Article and Find Full Text PDF

Background And Objective: To test the hypothesis that a multicenter-validated computer deep learning algorithm detects MRI-negative focal cortical dysplasia (FCD).

Methods: We used clinically acquired 3-dimensional (3D) T1-weighted and 3D fluid-attenuated inversion recovery MRI of 148 patients (median age 23 years [range 2-55 years]; 47% female) with histologically verified FCD at 9 centers to train a deep convolutional neural network (CNN) classifier. Images were initially deemed MRI-negative in 51% of patients, in whom intracranial EEG determined the focus.

View Article and Find Full Text PDF

The visual fixation represents a doubtful behavioral sign to discriminate Vegetative from Minimally Conscious State (MCS). To disentangle its meaning, we fitted univariate and multivariable logistic regression models matching different neurophysiological and neuroimaging data of 54 patients with Disorders of Consciousness to select the best model predicting which visual performance (visual blink or pursuit) was shown by patients and the best predictors set. The best models found highlighted the importance of the structural MRI and the visual evoked potentials data in predicting visual pursuit.

View Article and Find Full Text PDF

The impact of language impairment on the clinical assessment of patients suffering from disorders of consciousness (DOC) is unknown or underestimated and may mask the presence of conscious behavior. In a group of DOC patients ( = 11; time post-injury range: 5-252 months), we investigated the main neural functional and structural underpinnings of linguistic processing, and their relationship with the behavioral measures of the auditory function using the Coma Recovery Scale-Revised (CRS-R). We assessed the integrity of the brainstem auditory pathways, of the left superior temporal gyrus and arcuate fasciculus, the neural activity elicited by passive listening of an auditory language task, and the mean hemispheric glucose metabolism.

View Article and Find Full Text PDF

Background: Despite a growing understanding of disorders of consciousness following severe brain injury, the association between long-term impairment of consciousness, spontaneous brain oscillations, and underlying subcortical damage, and the ability of such information to aid patient diagnosis, remains incomplete.

Methods: Cross-sectional observational sample of 116 patients with a disorder of consciousness secondary to brain injury, collected prospectively at a tertiary center between 2011 and 2013. Multimodal analyses relating clinical measures of impairment, electroencephalographic measures of spontaneous brain activity, and magnetic resonance imaging data of subcortical atrophy were conducted in 2018.

View Article and Find Full Text PDF

Introduction: Focal Cortical Dysplasia (FCD) represents a broad spectrum of histopathological entities that cause drug-resistant epilepsy. Surgery has been shown to be the treatment of choice, but incomplete resection represents the leading cause of seizure persistence. Preliminary experiences with intraoperative ultrasound (ioUS) have proven its potential in defining and characterizing the lesion.

View Article and Find Full Text PDF

One of the major challenges for clinicians who treat patients with Disorders of Consciousness (DoCs) concerns the detection of signs of consciousness that distinguish patients in Vegetative State from those in Minimally Conscious State. Recent studies showed how visual responses to tailored stimuli are one of the first evidence revealing that one patient is changing from one state to another. This study aimed to explore the integrity of the neural structures being part of the visual system in patients with DoCs manifesting a reflexive behavior (visual blink) and in those manifesting a cognitively and cortically mediated behavior (visual pursuit).

View Article and Find Full Text PDF
Article Synopsis
  • The study explores the connection between impaired brain development and neurodevelopmental disorders, focusing on a rare condition called BBSOAS, caused by mutations in the NR2F1 gene.* -
  • Young patients with NR2F1 mutations exhibit intellectual disabilities and specific brain malformations, which were replicated in a mouse model used by researchers to investigate the gene's function.* -
  • NR2F1 is identified as a critical regulator of brain structure in both mice and humans, influencing the development of the cortex and the expression of other important development genes.*
View Article and Find Full Text PDF

Unequivocally demonstrating the presence of multisensory signals at the earliest stages of cortical processing remains challenging in humans. In our study, we relied on the unique spatio-temporal resolution provided by intracranial stereotactic electroencephalographic (SEEG) recordings in patients with drug-resistant epilepsy to characterize the signal extracted from early visual (calcarine and pericalcarine) and auditory (Heschl's gyrus and planum temporale) regions during a simple audio-visual oddball task. We provide evidences that both cross-modal responses (visual responses in auditory cortex or the reverse) and multisensory processing (alteration of the unimodal responses during bimodal stimulation) can be observed in intracranial event-related potentials (iERPs) and in power modulations of oscillatory activity at different temporal scales within the first 150 msec after stimulus onset.

View Article and Find Full Text PDF

Objective: Previous research has shown that certain eating patterns (rigid restraint, flexible restraint, intuitive eating) are differentially related to binge eating. However, despite the distinctiveness of these eating patterns, evidence suggests that they are not mutually exclusive. Using a machine learning-based decision tree classification analysis, we examined the interactions between different eating patterns in distinguishing recurrent (defined as ≥4 episodes the past month) from nonrecurrent binge eating.

View Article and Find Full Text PDF

Objective: To assess functional organization of the motor cortex in patients with Unverricht-Lundborg disease (EPM1A) using a combined neurophysiologic and imaging approach.

Methods: EPM1A patients underwent transcranial magnetic stimulation (TMS)-based cortical mapping of the motor hand area. Moreover, they performed neuroimaging studies to assess functional magnetic resonance imaging (fMRI) activation maps related to motor hand task and cortical thickness (CTH) on T1-weighted 3D images.

View Article and Find Full Text PDF

Background: Inflammation contributes to the pathophysiology of major depressive disorder (MDD), and anti-inflammatory strategies might therefore have therapeutic potential. This trial aimed to determine whether adjunctive aspirin or rosuvastatin, compared with placebo, reduced depressive symptoms in young people (15-25 years).

Methods: YoDA-A, Youth Depression Alleviation with Anti-inflammatory Agents, was a 12-week triple-blind, randomised, controlled trial.

View Article and Find Full Text PDF

The Inflexible Eating Questionnaire (IEQ) is a recently developed measure that assesses an individual's inflexible adherence to rigid eating rules, along with the tendency to respectively feel empowered or distressed when such rules are or are not followed. At present, evidence supporting the unidimensional structure and psychometric properties of the IEQ is limited to one specific sample of Portuguese adults. Establishing whether the IEQ is a valid and reliable measure in a different sample and by an independent research team is needed.

View Article and Find Full Text PDF