Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.

An association study of heterogeneous nuclear ribonucleoprotein (hnRNP)-A1 was carried out in a population of 274 patients with frontotemporal lobar degeneration (FTLD) and 287 with Alzheimer disease (AD) as compared with 344 age- and gender-matched controls. In addition, we evaluated expression levels of hnRNP-A1 and its regulatory microRNA (miR)-590-3p in blood cells from patients and controls. A statistically significant increased frequency of the hnRNP-A1 rs7967622 C/C genotype was observed in FTLD, but not in AD, in patients as compared to controls (23.

Longitudinal study of cognitive function in idiopathic REM sleep behavior disorder.

Study Objectives: To assess the longitudinal course of cognitive functions in a cohort of patients with idiopathic REM sleep behavior disorder (iRBD).

Design: Prospective study with baseline and 2-year follow-up.

Setting: Sleep disorders center.

Classification of primary progressive aphasia and its variants.

This article provides a classification of primary progressive aphasia (PPA) and its 3 main variants to improve the uniformity of case reporting and the reliability of research results. Criteria for the 3 variants of PPA--nonfluent/agrammatic, semantic, and logopenic--were developed by an international group of PPA investigators who convened on 3 occasions to operationalize earlier published clinical descriptions for PPA subtypes. Patients are first diagnosed with PPA and are then divided into clinical variants based on specific speech and language features characteristic of each subtype.

BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease.

BCL2-associated athanogene 1 (BAG1) is an anti-apoptotic factor that interacts with tau and regulates its proteasomal degradation. A significant increase of the BAG-1M isoform was found in Alzheimer's disease (AD) brains, and the protein co-localized with tau and amyloid. We carried out an association study of BAG1 in a population of 291 patients clinically diagnosed with frontotemporal lobar degeneration (FTLD), none of whom was a carrier of mutations in progranulin or microtubule associated protein tau genes and 374 with AD as compared with 314 age- and gender-matched controls.

Beyond the abstract-concrete dichotomy: mode of acquisition, concreteness, imageability, familiarity, age of acquisition, context availability, and abstractness norms for a set of 417 Italian words.

The main objective of this study is to investigate the abstract-concrete dichotomy by introducing a new variable: the mode of acquisition (MoA) of a concept. MoA refers to the way in which concepts are acquired: through experience, through language, or through both. We asked 250 participants to rate 417 words on seven dimensions: age of acquisition, concreteness, familiarity, context availability, imageability, abstractness, and MoA.

Learning from other people's experience: a neuroimaging study of decisional interactive-learning.

Decision-making is strongly influenced by the counterfactual anticipation of personal regret and relief, through a learning process involving the ventromedial-prefrontal cortex. We previously reported that observing the regretful outcomes of another's choices reactivates the regret-network. Here we extend those findings by investigating whether this resonant mechanism also underpins interactive-learning from others' previous outcomes.

Obstructive sleep apnea: brain structural changes and neurocognitive function before and after treatment.

Rationale: Obstructive sleep apnea (OSA) is commonly associated with neurocognitive impairments that have not been consistently related to specific brain structure abnormalities. Knowledge of the brain structures involved in OSA and the corresponding functional implications could provide clues to the pathogenesis of cognitive impairment and its reversibility in this disorder.

Objectives: To investigate the cognitive deficits and the corresponding brain morphology changes in OSA, and the modifications after treatment, using combined neuropsychologic testing and voxel-based morphometry.

Intention processing in communication: a common brain network for language and gestures.

Human communicative competence is based on the ability to process a specific class of mental states, namely, communicative intention. The present fMRI study aims to analyze whether intention processing in communication is affected by the expressive means through which a communicative intention is conveyed, that is, the linguistic or extralinguistic gestural means. Combined factorial and conjunction analyses were used to test two sets of predictions: first, that a common brain network is recruited for the comprehension of communicative intentions independently of the modality through which they are conveyed; second, that additional brain areas are specifically recruited depending on the communicative modality used, reflecting distinct sensorimotor gateways.

Naming from definition, semantic relevance and feature type: the effects of aging and Alzheimer's disease.

Objective: The principal aim of the present study was to evaluate the impact of semantic relevance and feature type on the ability to name from definition.

Method: Thirty-two normal young subjects (Study 1) and 20 probable Alzheimer's disease patients (pAD) with 20 matched older controls (Study 2) were tested with verbal definitions consisting of 4 features, combining feature type (sensory vs. nonsensory) and semantic relevance (high vs.

Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings.

Serotonergic transmission impairment and abnormal phosphorylation of tau protein have been implicated in the physiopathology of Alzheimer's disease (AD) and frontotemporal lobar dementia (FTLD). Associations between a functional polymorphism (5-HTTLPR), in the promoter region of the serotonin transporter gene, and susceptibility to sporadic AD and FTLD have been reported. A polymorphism (Q7R) in saitohin gene inside the microtubule-associated protein tau gene has also been related to dementia.

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

Linkage analysis identified a region on chromosome 9p associated with Frontotemporal Lobar Degeneration (FTLD). A detailed analysis of candidate genes lying in this region demonstrated an association with Ubiquitin Associated Protein (UBAP)1. The distribution of five Single Nucleotide Polymorphisms (SNPs) located in the chromosome 9 haplotype identified via linkage analysis, including UBAP1 rs7018487, UBAP2 rs1785506 and rs307658, and KIF24 rs17350674 and rs10814083, has been determined in a population of 284 patients diagnosed with FTLD, including 245 with behavioural variant Frontotemporal Dementia (bvFTD), 23 with Progressive Aphasia and 16 with Semantic Dementia, compared with 318 age-matched controls.

Event-related rTMS at encoding affects differently deep and shallow memory traces.

The "level of processing" effect is a classical finding of the experimental psychology of memory. Actually, the depth of information processing at encoding predicts the accuracy of the subsequent episodic memory performance. When the incoming stimuli are analyzed in terms of their meaning (semantic, or deep, encoding), the memory performance is superior with respect to the case in which the same stimuli are analyzed in terms of their perceptual features (shallow encoding).

Imaging studies of recovery from unilateral neglect.

The paper reviews the contribution of functional neuroimaging investigations (using single photon emission tomography, positron emission tomography and functional magnetic resonance) to the study of the neural mechanisms of recovery in patients with unilateral spatial neglect due to stroke. In addition, it highlights the important contribution of Luigi Pizzamiglio's experimental work in establishing a theoretical framework for the interpretation of imaging findings. The main tenet of this conception is that the brain reorganisation associated to recovery results from the engagement of both ipsilesional and contralesional brain areas, which in normal subjects are associated to task-relevant processes, such as oculomotor behaviour and visuo-spatial attentional shifts.

Improved language performance in Alzheimer disease following brain stimulation.

Objectives: Repetitive transcranial magnetic stimulation (rTMS) has been proposed as a possible treatment for the cognitive deficits associated with Alzheimer disease (AD). The aim of this study was to assess the long-term effects, on cognitive performance, of rTMS applied to the left dorsolateral prefrontal cortex (DLPFC) in AD patients.

Methods: Ten AD patients were randomly assigned to one of two study groups.

Central role of extracellular signal-regulated kinase and Toll-like receptor 4 in IL-10 production in regulatory dendritic cells induced by Trypanosoma cruzi.

Several Trypanosoma cruzi molecules that stimulate macrophages activity were described as Toll-like receptor 2 (TLR2) ligands. Besides, the models of dendritic cells (DC) are poorly characterised. We have previously demonstrated that live-trypomastigotes (Tp) plus lipopolysaccharide (LPS) induce DC with tolerogenic properties that produce high levels of interleukin (IL)-10 and an impaired capacity to induce lymphoproliferation.

Temporal dynamics of memory trace formation in the human prefrontal cortex.

Event-related repetitive transcranial magnetic stimulation (rTMS) can dynamically interfere with the memory encoding of complex visual scenes. Here, we investigated the critical time elapsing from stimulus presentation to the formation of an effective memory trace by delivering rTMS (900 ms at 20 Hz) during the encoding of visual scenes at different poststimulus delays (from 100 to 500 ms) in 28 healthy volunteers. The stimulation delay showed a robust inverse correlation with the correct retrieval of encoded images.

Brain switches utilitarian behavior: does gender make the difference?

Decision often implies a utilitarian choice based on personal gain, even at the expense of damaging others. Despite the social implications of utilitarian behavior, its neurophysiological bases remain largely unknown. To assess how the human brain controls utilitarian behavior, we delivered transcranial direct current stimulation (tDCS) over the ventral prefrontal cortex (VPC) and over the occipital cortex (OC) in 78 healthy subjects.

GRN variability contributes to sporadic frontotemporal lobar degeneration.

Mutations in the progranulin gene (GRN) are responsible for familial FTLD with ubiquitin pathology (FTLD-U). However, there are controversial data regarding the contribution of GRN variability to sporadic FTLD. We carried out an association study in 265 patients, who did not carry a GRN causal mutation, and 375 age-matched controls.

FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration.

Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS). Only patients negative for GRN mutations were included. Considering each SNP alone, no differences in either allelic or genotypic frequencies between patients and controls were found (P > 0.

The neural bases of word encoding and retrieval: A fMRI-guided transcranial magnetic stimulation study.

There is evidence that the human prefrontal cortex is asymmetrically involved in long-term episodic memory processing. Moreover, abstract and concrete words processing has been reported to differentially involve prefrontal and parietal areas. We implemented a two-stages functional magnetic resonance imaging (fMRI)-repetitive transcranial magnetic stimulation (rTMS) paradigm to investigate the role of the dorsolateral prefrontal cortices (DLPFCs) and parietal cortices (PARCs) in encoding and retrieval of abstract and concrete words.

Generalization of the effects of phonological training for anomia using structural equation modelling: a multiple single-case study.

Structural Equation Modelling analysis of three longitudinal er-fMRI sessions was used to test the impact of phonological training and of the generalization process on the pattern of brain connectivity during overt picture naming in two chronic anomic patients. Phonological training yielded a positive effect on the trained material. Six months after the training, a generalization of the positive impact on the untrained items was also observed.

Understanding others' regret: a FMRI study.

Previous studies showed that the understanding of others' basic emotional experiences is based on a "resonant" mechanism, i.e., on the reactivation, in the observer's brain, of the cerebral areas associated with those experiences.

Brain activation changes before and after PAP treatment in obstructive sleep apnea.

Study Objectives: Obstructive sleep apnea syndrome (OSAS) is associated with cognitive and functional deficits, most of which are corrected after positive airway pressure (PAP) treatment. Previous studies investigating the neural underpinnings of OSAS failed to provide consistent results both on the cerebral substrates underlying cognitive deficits and on the effect of treatment on these anomalies. The aims of the study were a) to investigate whether never-treated OSA patients demonstrated differences in brain activation compared to healthy controls during a cognitive task; and b) to investigate whether any improvements in cognitive functioning found in OSA patients after treatment reflected a change in the underlying cerebral activity.