Increased glutamate + glutamine levels in the thalamus of patients with essential tremor: A preliminary proton MR spectroscopic study.

Introduction: The aim of this study was to investigate the thalamic biochemical profile in patients with essential tremor (ET), using proton magnetic resonance spectroscopy (H-MRS), and to explore the correlations between clinical and biochemical data.

Methods: Sixteen patients with ET and 14 healthy controls participated in this study. After conventional MR imaging, single-voxel H-MRS (TR = 2000 ms; TE = 28 ms) was performed by using a PROBE-SV system implemented on a 3-T scanner.

The challenge of mapping the human connectome based on diffusion tractography.

Tractography based on non-invasive diffusion imaging is central to the study of human brain connectivity. To date, the approach has not been systematically validated in ground truth studies. Based on a simulated human brain data set with ground truth tracts, we organized an open international tractography challenge, which resulted in 96 distinct submissions from 20 research groups.

Personality biomarkers of pathological gambling: A machine learning study.

Background: The application of artificial intelligence to extract predictors of Gambling disorder (GD) is a new field of study. A plethora of studies have suggested that maladaptive personality dispositions may serve as risk factors for GD.

New Method: Here, we used Classification and Regression Trees algorithm to identify multivariate predictive patterns of personality profiles that could identify GD patients from healthy controls at an individual level.

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology.

Genetic alterations impacting ubiquitously expressed proteins involved in RNA metabolism often result in neurodegenerative conditions, with increasing evidence suggesting that translation defects can contribute to disease. Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, whose role in pathogenesis remains unclear. Here, we identified in vivo and in vitro translation defects that are cell autonomous and SMN dependent.

Random Forest Algorithm for the Classification of Neuroimaging Data in Alzheimer's Disease: A Systematic Review.

Machine learning classification has been the most important computational development in the last years to satisfy the primary need of clinicians for automatic early diagnosis and prognosis. Nowadays, Random Forest (RF) algorithm has been successfully applied for reducing high dimensional and multi-source data in many scientific realms. Our aim was to explore the state of the art of the application of RF on single and multi-modal neuroimaging data for the prediction of Alzheimer's disease.

A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.

Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI) critical in cell membrane homeostasis. PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14).

Regulation of HuR structure and function by dihydrotanshinone-I.

The Human antigen R protein (HuR) is an RNA-binding protein that recognizes U/AU-rich elements in diverse RNAs through two RNA-recognition motifs, RRM1 and RRM2, and post-transcriptionally regulates the fate of target RNAs. The natural product dihydrotanshinone-I (DHTS) prevents the association of HuR and target RNAs in vitro and in cultured cells by interfering with the binding of HuR to RNA. Here, we report the structural determinants of the interaction between DHTS and HuR and the impact of DHTS on HuR binding to target mRNAs transcriptome-wide.

Ictal 18F-FDG PET/MRI in a Patient With Cortical Heterotopia and Focal Epilepsy.

A 19-year-old man with epilepsy underwent ictal F-FDG PET/MRI, showing a 5 mm heterotopic nodule in the periventricular white matter, adjacent to the frontal horn of the left lateral ventricle (SUVmax, 5.5; glucidic cerebral metabolic rate, 0.317 μmol/mL).

Validation Study of Italian Version of Inventory for Déjà Vu Experiences Assessment (I-IDEA): A Screening Tool to Detect Déjà Vu Phenomenon in Italian Healthy Individuals.

The Inventory Déjà Vu Experiences Assessment (IDEA) is the only screening instrument proposed to evaluate the Déjà vu (DV) experience. Here, we intended to validate the Italian version of IDEA (I-IDEA) and at the same time to investigate the incidence and subjective qualities of the DV phenomenon in healthy Italian adult individuals on basis of an Italian multicentre observational study. In this study, we report normative data on the I-IDEA, collected on a sample of 542 Italian healthy subjects aging between 18-70 years (average age: 40) with a formal educational from 1-19 years.

Thalamic neurometabolic alterations in tremulous Parkinson's disease: A preliminary proton MR spectroscopy study.

Introduction: The objective of this study was to investigate the thalamic biochemical changes in tremor-dominant Parkinson's disease (tPD) patients in comparison with essential tremor with resting tremor (rET) patients, by using proton MR spectroscopy (H-MRS).

Methods: Fourteen tPD patients, 12 rET patients and 10 controls participated in this study. All patients underwent dopamine transporter single-photon emission computed tomography (DAT-SPECT) with I-ioflupane, and a short-echo single-voxel H-MRS on a 3T scanner.

Head trauma and Parkinson's disease: results from an Italian case-control study.

We evaluated the possible association between head trauma and Parkinson's disease (PD). The FRAGAMP (Fattori di Rischio Ambientali e Genetici Associati alla Malattia di Parkinson) study is a large Italian multicenter case-control study carried out to evaluate the possible role of environmental and genetic factors in PD. Cases and controls were enrolled from six movement disorders centers located in the Central-Southern Italy.

Structural connectivity differences in essential tremor with and without resting tremor.

In this work, we investigated motor network structure in patients affected by essential tremor (ET) with or without resting tremor, using probabilistic tractography of the cerebello-thalamo-basal ganglia-cortical loop. Twenty-five patients with ET, twenty-two patients with ET associated with resting tremor (rET), and twenty-five age- and sex-matched healthy controls were included in the study. All participants underwent whole-brain 3D T1-weighted and diffusion-weighted MRI, and DAT-SPECT.

Structural connectivity differences in motor network between tremor-dominant and nontremor Parkinson's disease.

Motor phenotypes of Parkinson's disease (PD) are recognized to have different prognosis and therapeutic response, but the neural basis for this clinical heterogeneity remains largely unknown. The main aim of this study was to compare differences in structural connectivity metrics of the main motor network between tremor-dominant and nontremor PD phenotypes (TD-PD and NT-PD, respectively) using probabilistic tractography-based network analysis. A total of 63 PD patients (35 TD-PD patients and 28 NT-PD patients) and 30 healthy controls underwent a 3 T MRI.

Silencing of the RNA-binding protein HuR attenuates hyperalgesia and motor disability in experimental autoimmune encephalomyelitis.

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system associated with progressive neuronal loss and axonal degeneration. Neuronal lesions and dysfunction lead often to neuropathic pain, the most prevalent and difficult to treat pain syndrome observed in MS patients. Despite its widespread occurrence, the underlying neural mechanisms for MS pain are not fully understood.

Macrophage infiltration and genetic landscape of undifferentiated uterine sarcomas.

Endometrial stromal tumors include translocation-associated low- and high-grade endometrial stromal sarcomas (ESS) and highly malignant undifferentiated uterine sarcomas (UUS). UUS is considered a poorly defined group of aggressive tumors and is often seen as a diagnosis of exclusion after ESS and leiomyosarcoma (LMS) have been ruled out. We performed a comprehensive analysis of gene expression, copy number variation, point mutations, and immune cell infiltrates in the largest series to date of all major types of uterine sarcomas to shed light on the biology of UUS and to identify potential novel therapeutic targets.

Magnetic Resonance Parkinsonism Index and midbrain to pons ratio: Which index better distinguishes Progressive Supranuclear Palsy patients with a low degree of diagnostic certainty from patients with Parkinson Disease?

Introduction: Several studies have compared the performances of midbrain to pons area ratio (M/P) and the Magnetic Resonance Parkinsonism Index (MRPI) in distinguishing patients with Progressive Supranuclear Palsy (PSP) from those with Parkinson's disease (PD) with conflicting results. The current study aimed to compare the performance of these indexes in a well-characterized sample of PSP patients using either a manual or a fully automated approach to measure the brainstem structures involved in M/P and MRPI calculation.

Methods: This study involved 179 patients affected by idiopathic PD, 35 patients affected by PSP (15 probable and 20 possible) and 87 healthy controls.

Processing graspable object images and their nouns is impaired in Parkinson's disease patients.

According to embodiment, the recruitment of the motor system is necessary to process language material expressing a motor content. Coherently, an impairment of the motor system should affect the capacity to process language items with a motor content. The aim of the present study was to assess the capacity to process graspable objects and their nouns in Parkinson's disease (PD) patients and healthy controls.

Identification and dynamic changes of RNAs isolated from RALY-containing ribonucleoprotein complexes.

RALY is a member of the heterogeneous nuclear ribonucleoprotein family (hnRNP), a large family of RNA-binding proteins involved in many aspects of RNA metabolism. Although RALY interactome has been recently characterized, a comprehensive global analysis of RALY-associated RNAs is lacking and the biological function of RALY remains elusive. Here, we performed RIP-seq analysis to identify RALY interacting RNAs and assessed the role of RALY in gene expression.

Near-Infrared Spectroscopy in Gait Disorders: Is It Time to Begin?

Walking is a complex motor behavior with a special relevance in clinical neurology. Many neurological diseases, such as Parkinson's disease and stroke, are characterized by gait disorders whose neurofunctional correlates are poorly investigated. Indeed, the analysis of real walking with the standard neuroimaging techniques poses strong challenges, and only a few studies on motor imagery or walking observation have been performed so far.

Increased cerebellar gray matter volume in head chefs.

Objective: Chefs exert expert motor and cognitive performances on a daily basis. Neuroimaging has clearly shown that that long-term skill learning (i.e.