Crossed aphasia in a dextral without impairment of visuo-spatial abilities: a case report

Modulation of visual cortex excitability in patients affected by Friedreich ataxia

Resting state fMRI as a tool to investigate brain functional connectivity

High frequency of motoneuron dysfunction in FTD: a clinical and electrophysiological study

The serum level of free testosterone is reduced in amyotrophic lateral sclerosis

Sporadic amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting upper and lower motoneurons. There is an approximately 2:1 higher incidence of ALS in men compared to women, and this has raised the hypothesis of an involvement of sex hormones in the etiopathogenesis of the disorder. In this work, the serum levels of dehydroepiandrosterone sulphate (DHEAS), 17-betaestradiol, free and total testosterone were measured in 35 patients with defined or probable ALS, according to the El-Escorial/WFN revisited criteria, and compared to those obtained from 57 disease controls, matched for age and gender to the ALS group. We found no differences between ALS cases and …

ELECTROCARDIOGRAPHIC FINDINGS IN PATIENTS WITH DEMENTIA.

PRIMARY PROGRESSIVE CROSSED APHASIA IN A DEXTRAL WOMAN

Pregnenolone sulfate modulates NMDA receptors, inducing and potentiating acute excitotoxicity in isolated retina

Pregnenolone sulfate (PS) acts as a positive allosteric modulator of N-methyl-D-aspartate (NMDA) receptor-mediated responses. In the retina, we previously observed that the synthesis of pregnenolone and PS increases after stimulation of NMDA receptors and blockade of the synthesis reduces retinal cell death. This study was carried out to explore in the isolated and intact retina the possible role of PS in NMDA-induced excitotoxicity. Lactate dehydrogenase (LDH) measurements and morphological analysis revealed that a 90-min exogenous application of PS at 0.1-500 microM concentrations potentiated NMDA-induced cell death and at 50-500 microM concentrations caused cytotoxicity. After 45 min, ei…

COVID-19 and Alzheimer’s Disease

The Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is a neurotropic virus with a high neuroinvasive potential. Indeed, more than one-third of patients develop neurological symptoms, including confusion, headache, and hypogeusia/ageusia. However, long-term neurological consequences have received little interest compared to respiratory, cardiovascular, and renal manifestations. Several mechanisms have been proposed to explain the potential SARS-CoV-2 neurological injury that could lead to the development of neurodegenerative diseases, including Alzheimer’s Disease (AD). A mutualistic relationship between AD and COVID-19 seems to exist. On the one hand, COVID-19 patients seem to …

Reward networks changes in the brain of pathological gamblers: a resting state functional magnetic resonance imaging study

Aims and objectives Methods and materials Results Conclusion Personal information References

PATHOLOGICAL GAMBLING: AN ASSOCIATION WITH ALEXITHYMIA, PERSONALITY DISORDERS AND CLINICAL SYNDROMES

Pathological gambling (PG) is a disorder recently conceptualized as a behavioural addiction, because of its neurobiological, neurophysiological and psychological features (American Psychiatric Association. Diagnostic and statistical manual of mental disorders - 5th ed., 2013; Potenza et al., 2012). PG represents both a social and a sanitary cost, in terms of pharmacological and psychological therapies. The aim of this study was to examine the correlation between personality disorders, clinical syndromes and alexithymia levels in a group of pathological gamblers. Furthermore this study aimed at highlighting a relationship between PG and alexithymia, over and above the relationship between pe…

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of 38 unrelated Italian patients with spastic paraplegia, of which 24 had a clear dominant inheritance and 14 were apparently sporadic, were screened for mutations in the SPG4 gene.We identified 11 different mutations, six of which were novel (p.Glu143GlyfsX8, p.Tyr415X, p.Asp548Asn, c…

Resting state FMRI: A tool to investigate functional connectivity modulation induced by transcranial direct current stimulation of the motor network

Introduction: Resting-state functional connectivity (fcMRI) represents a novel fMRI approach that allows detection of temporal correlations in spontaneous BOLD signal oscillations while subjects rest quietly in the scanner. Under resting conditions the brain is engaged in spontaneous activity that causes a low frequencies (<0.1 Hz) BOLD signal fluctuations. Functional connectivity (FC) can be defined as the synchrony of neural activity among spatially distant regions. Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique that is known to modulate cortical activity and FC among brain regions, as measured by functional magnetic resonance imaging. This st…

THE PALMOMENTAL REFLEX IN AMYOTROPHIC LATERA SCLEROSIS

Levetiracetam, a new option Treatment for Creutzfeldt-Jacob Disease.

A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease

We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier,…

Anodal transcranial direct current stimulation over the right hemisphere improves auditory comprehension in a case of dementia.

Background Noninvasive transcranial stimulation methods have been increasingly employed in order to improve cognitive performance in neurological patients. In previous studies with both stroke patients and healthy subjects, noninvasive stimulation of temporal-parietal regions and their homologue produced an improvement in linguistic tasks. Objective The aim of the current study was to evaluate if anodal transcranial direct current stimulation (tDCS) over Brodmann areas 39/40 (angular and supramarginal gyri) could promote the recovery of linguistic functions, in particular comprehension and naming, in a single patient affected by dementia. Methods Three preliminary explorative single session…

Functional connectivity modulation induced by transcranial direct current stimulation of the motor network investigated by resting state fMRI

This study is aimed at measuring the variation of functional connectivity between cortical brain regions after tDCS along time. For this purpose we enrolled 20 healthy right-handed subjects.

The instruments used by the Italian centres for cognitive disorders and dementia to diagnose mild cognitive impairment (MCI).

Aims: The purpose of this study was to examine the tools used in Italy to diagnose mild cognitive impairment (MCI). Methods: In collaboration with the Luigi Amaducci Research Consortium, the Italian Network of Alzheimer Evaluation Units prepared a questionnaire to describe how MCI is diagnosed in the Italian Centres for cognitive disorders and dementia (CCDD). Results: Most of the ninety-two CCDDs participating in the survey were located in hospitals (54.7%); large percentages were coordinated by neurologists (50.8%) and geriatricians (44.6%). Almost all (98.5%) used the Mini Mental State Examination to diagnose MCI; the Clock Drawing Test was also frequently used (83.9%). Other neuropsycho…

Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia

Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD),…

Bilateral Transcranial Magnetic Stimulation of the Prefrontal Cortex Reduces Cocaine Intake: A Pilot Study

Background Chronic cocaine consumption is associated with a decrease in mesolimbic dopamine transmission that maintains drug intake. transcranial magnetic stimulation (TMS) is gaining reliability, a useful therapeutic tool in drug addiction, since it can modulate cortico-limbic activity resulting in reduction of drug craving. Aims In the present study, we investigated the therapeutic effect of bilateral TMS of prefrontal cortex (PFC) in reducing cocaine intake, in a sample of treatment-seeking patients with current cocaine use disorder (DSM-V). Methods Ten cocaine addicts (DSM-V) were randomly assigned to the active or sham stimulation protocol in a double-blind experimental design. Twelve …

A case study of Primary Progressive Aphasia: improvement on verbs after rTMS treatment.

This case-report shows that high frequency repetitive Transcranial Magnetic Stimulation (hf-rTMS), applied to the left prefrontal cortex, may improve the linguistic skills in Primary Progressive Aphasia (PPA). The patient's performance was evaluated on a battery of language production and memory span tasks, before and after two hf-rTMS treatments and one SHAM treatment. We observed a significant and lasting improvement of the patient's performance on verb production following the application of hf-rTMS versus Baseline and SHAM conditions. This finding suggests that hf-rTMS may directly strengthen the neural connections within an area of metabolic dysfunction and encourages the use of rTMS a…

Haptoglobin interacts with apolipoprotein E and beta-amyloid and influences their crosstalk.

Beta-amyloid accumulation in brain is a driving force for Alzheimer's disease pathogenesis. Apolipoprotein E (ApoE) represents a critical player in beta-amyloid homeostasis, but its role in disease progression is controversial. We previously reported that the acute-phase protein haptoglobin binds ApoE and impairs its function in cholesterol homeostasis. The major aims of this study were to characterize the binding of haptoglobin to beta-amyloid, and to evaluate whether haptoglobin affects ApoE binding to beta-amyloid. Haptoglobin is here reported to form a complex with beta-amyloid as shown by immunoblotting experiments with purified proteins, or by its immunoprecipitation in brain tissues …

Cerebral Venous Sinus Espansion in Post Puncture Headache

Prognostic Role of CSF β-amyloid 1–42/1–40 Ratio in Patients Affected by Amyotrophic Lateral Sclerosis

The involvement of β-amyloid (Aβ) in the pathogenesis of amyotrophic lateral sclerosis (ALS) has been widely discussed and its role in the disease is still a matter of debate. Aβ accumulates in the cortex and the anterior horn neurons of ALS patients and seems to affect their survival. To clarify the role of cerebrospinal fluid (CSF) Aβ 1–42 and Aβ 42/40 ratios as a potential prognostic biomarker for ALS, we performed a retrospective observational study on a cohort of ALS patients who underwent a lumbar puncture at the time of the diagnosis. CSF Aβ 1–40 and Aβ 1–42 ratios were detected by chemiluminescence immunoassay and their values were correlated with clinical features. We found a signi…

Progressive visuospatial dysfunction as a clinical entity.

Radiomics Analysis of Brain [18F]FDG PET/CT to Predict Alzheimer’s Disease in Patients with Amyloid PET Positivity: A Preliminary Report on the Application of SPM Cortical Segmentation, Pyradiomics and Machine-Learning Analysis

Background: Early in-vivo diagnosis of Alzheimer’s disease (AD) is crucial for accurate management of patients, in particular, to select subjects with mild cognitive impairment (MCI) that may evolve into AD, and to define other types of MCI non-AD patients. The application of artificial intelligence to functional brain [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography(CT) aiming to increase diagnostic accuracy in the diagnosis of AD is still undetermined. In this field, we propose a radiomics analysis on advanced imaging segmentation method Statistical Parametric Mapping (SPM)-based completed with a Machine-Learning (ML) application to predict the diagnosi…

Human neuroblastoma SH-SY5Y cell line: neurosteroid-producing cell line relying on cytoskeletal organization.

Pregnenolone, the precursor of all steroids, is synthesized by CNS structures. The synthesis requires an obligatory step involving cholesterol transport to mitochondrial cytochrome P450-cholesterol side chain cleavage (cytP450scc), although the underlying mechanism(s) are still mostly unknown. We used the human neuroblastoma SH-SY5Y cell line to investigate cytP450scc expression and activity and to establish a role of cytoskeleton in pregnenolone synthesis. Immunocytochemical and biochemical approaches revealed that undifferentiated as well as differentiated cells either by retinoic acid (RA) or phorbol ester 12-O-tetradecanoylphorbol-13-acetate (TPA), possess cytP450scc and rapidly synthes…

Expression and developmental regulation of the cystine/glutamate exchanger (xc-) in the rat.

The cystine/glutamate exchanger (antiporter x c − ) is a membrane transporter involved in the uptake of cystine, the rate-limiting amino acid in the synthesis of glutathione. Recent studies suggest that the antiporter plays a role in the slow oxidative excitotoxity and in the pathological effects of β-N-oxalylamino-l-alanine, the molecule responsible for neurolathyrism, a neurotoxic upper motor neuron disease. The mouse cystine/glutamate exchanger has been cloned and showed to be composed of two distinct proteins, one of which being a novel protein, named xCT, of 502 amino acids and 12 putative trans-membrane domains. We have generated and purified a polyclonal antibody to mouse xCT and stu…

SCA17 AS CAUSE OF EARLY-ONSET DEMENTIA IN SOUTHERN ITALY: REPORT OF A NEW FAMILY

Chronic acquired hepatocerebral degeneration or Parkinson Disease? A case report

Identification of a novel omozigosi mutation in the sil 1 gene in Marinesco Siogrene Syndrome.

Modulating Long Term Memory at Late-Encoding Phase: An rTMS Study

Despite a huge effort of the scientific community, the functioning of Long-Term Memory (LTM) processes is still debated and far from being elucidated. Functional and neurophysiological data point to an involvement of Dorsolateral Prefrontal Cortex (DLPFC) in both encoding and retrieval phases. However, the recently proposed Explicit/Implicit Memory Encoding and Retrieval (EIMER) model proposes that LTM at the encoding phase consists of anatomically and chronologically different sub-phases. On this basis, we aimed to investigate the role of right DLPFC during a late-encoding phase by means of low-frequency rTMS. Thirty right-handed healthy subjects were divided into three experimental groups…

FUNCTIONAL CONNECTIVITY OF THE CEREBELLUM INPATHOLOGICAL GAMBLER

The amyotrophic lateral sclerosis functional rating scale predicts survival time in amyotrophic lateral sclerosis patients on invasive mechanical ventilation.

Objective: To determine whether the amyotrophic lateral sclerosis functional rating scale (ALSFRS), which is a validated instrument that assesses the functional status and the disease progression in patients with amyotrophic lateral sclerosis (ALS), predicts hospital length of stay and survival time in ALS patients treated with tracheostomy-intermittent positive-pressure ventilation (TIPPV). Methods: Thirty-three consecutive ALS patients with acute respiratory failure who received therapy with TIPPV were prospectively followed up from their admission to the hospital until death. The association of ALSFRS score at hospital admission with length of hospital stay and survival after TIPPV were …

Causes and place of death in Italian patients with amyotrophic lateral sclerosis

Objectives - To determine the causes and place of death in a cohort of Italian patients with amyotrophic lateral sclerosis (ALS). A better understanding of the likely causes of death in ALS might improve the palliative care at the end-of-life, whereas knowing the place of death will help to verify the need for highly specialized care services, e.g. hospice and nursing home. Patients and methods - Between 2000 and 2008, 182 ALS patients (onset: spinal, 127; bulbar, 55; M/F: 1.6) were followed in a single ALS Tertiary Centre in Palermo, Sicily, Italy until death. Medical data for each individual patient were recorded in a large database throughout the disease course. Information concerning ca…

Unraveling Moral Reasoning in Amyotrophic Lateral Sclerosis: How Emotional Detachment Modifies Moral Judgment

In the last decade, scientific literature provided solid evidence of cognitive deficits in amyotrophic lateral sclerosis (ALS) patients and their effects on end-life choices. However, moral cognition and judgment are still poorly investigated in this population. Here we aimed at evaluating both socio-cognitive and socio-affective components of moral reasoning in a sample of 28 ALS patients. Patients underwent clinical and neuropsychological evaluation including basic cognitive and social cognition measures. Additionally, we administered an experimental task including moral dilemmas, with instrumental and incidental conditions. Patients' performances were compared with a control group [healt…

ESPRESSIONE DELL’ANTIPORTER CISTINA/GLUTAMMATO XC- NEL SISTEMA NERVOSO DI RATTO

DEFAULT MODE NETWORK AND WORKING MEMORY NETWORK DURING AN FMRI WORKING MEMORY TASK: DIFFERENCES AND CORRELATIONS WITH BEHAVIORAL PERFORMANCE

INTRODUCTION Previous neuroimaging studies have shown that working memory load has marked effects on regional neural activation[1-5]. However, the mechanism through which working memory load modulates brain connectivity is still unclear. During a working memory task, two of the most involved networks are the default mode network (DMN) and the working memory network (WMN)[6-7]: the selective focus on these networks can be useful in better understanding the load effects. Spatial independent component analysis (ICA)[8] has becomes a reliable technique to investigate the networks involved during an fMRI task, as it extracts spatiotemporal patterns of neural activity maximizing spatial independe…

Elevated cerebrospinal fluid and plasma homocysteine levels in ALS

Background:  High cerebrospinal fluid (CSF) and plasma levels of homocysteine (HC) have been reported in certain neurodegenerative disorders, such as Alzheimer’s, Parkinson’s diseases and, recently, amyotrophic lateral sclerosis (ALS). Objectives:  To assay the CSF and plasma levels of HC in ALS patients and controls, and to evaluate the relationship between HC levels and clinical variables of the disease. Methods:  Cerebrospinal fluid from sixty-nine (M/F 1.87) and plasma from sixty-five ALS patients (M/F 1.83) were taken and stored at −80°C until use. Controls (CSF = 55; plasma = 67) were patients admitted to our hospital for neurological disorders with no known relationship to HC changes…

Distributed analysis of simultaneous EEG-fMRI time-series: modeling and interpretation issues

Functional magnetic resonance imaging (fMRI) and electroencephalography (EEG) represent brain activity in terms of a reliable anatomical localization and a detailed temporal evolution of neural signals. Simultaneous EEG-fMRI recordings offer the possibility to greatly enrich the significance and the interpretation of the single modality results because the same neural processes are observed from the same brain at the same time. Nonetheless, the different physical nature of the measured signals by the two techniques renders the coupling not always straightforward, especially in cognitive experiments where spatially localized and distributed effects coexist and evolve temporally at different …

Primary progressive crossed aphasia in dextrals: report of three cases

Reduced striatal dopamine transporter binding in posterior cortical atrophy

18F-Florbetaben PET/CT to Assess Alzheimer's Disease: A new Analysis Method for Regional Amyloid Quantification.

Background and purpose While AD can be definitively confirmed by postmortem histopathologic examination, in vivo imaging may improve the clinician's ability to identify AD at the earliest stage. The aim of the study was to test the performance of amyloid PET using new processing imaging algorithm for more precise diagnosis of AD. Methods Amyloid PET results using a new processing imaging algorithm (MRI-Less and AAL Atlas) were correlated with clinical, cognitive status, CSF analysis, and other imaging. The regional SUVR using the white matter of cerebellum as reference region and scores from clinical and cognitive tests were used to create ROC curves. Leave-one-out cross-validation was carr…

Diagnostic accuracy of cerebrospinal fluid biomarkers measured by chemiluminescent enzyme immunoassay for Alzheimer disease diagnosis.

In the last decades, an important role of cerebrospinal fluid (CSF) biomarkers for Alzheimer disease (AD) diagnosis has emerged. The evaluation of the triad consisting of 42 aminoacid-long amyloid-beta peptide (Aβ42), total Tau (tTau) and Tau phosphorylated at threonine 181 (pTau) have been recently integrated into the research diagnostic criteria of AD. For a long time, the enzyme-linked immunosorbent assay (ELISA) has represented the most commonly used method for the measurement of CSF biomarkers levels. This study aimed to assess the diagnostic accuracy of CSF biomarkers, namely Aβ42, tTau and pTau and their ratio, measured by fully automated CLEIA assay (Lumipulse). We included 96 patie…

Quetiapine dose-sparing effect with addiction of memantine: two cases report of Lewy Body disease and dementia associated with Parkinson’s disease

Isolate progressive visuospatial dysfunction: a new form of MCI?

Factors associated with mild cognitive impairment in a population-based cohort

Il lavoro non prevede abstract

IDENTIFICATION OF A NOVEL COMPOUND HETEROZYGOUS MUTATION OF SPG11 IN A PATIENT AFFECTED BY HSPWITH THIN CORPUS CALLOSUM

Biomarkers Related to Synaptic Dysfunction to Discriminate Alzheimer&rsquo;s Disease from Other Neurological Disorders

Recently, the synaptic proteins neurogranin (Ng) and &alpha;-synuclein (&alpha;-Syn) have attracted scientific interest as potential biomarkers for synaptic dysfunction in neurodegenerative diseases. In this study, we measured the CSF Ng and &alpha;-Syn concentrations in patients affected by AD (n = 69), non-AD neurodegenerative disorders (n-AD = 50) and non-degenerative disorders (n-ND, n = 98). The concentrations of CSF Ng and &alpha;-Syn were significantly higher in AD than in n-AD and n-ND. Moreover, the A&beta;42/Ng and A&beta;42/&alpha;-Syn ratios showed statistically significant differences between groups and discriminated AD patients from n-AD patients, better than Ng or &alpha;-Syn…

Drug Prescription and Delirium in Older Inpatients: Results From the Nationwide Multicenter Italian Delirium Day 2015-2016

Objective This study aimed to evaluate the association between polypharmacy and delirium, the association of specific drug categories with delirium, and the differences in drug-delirium association between medical and surgical units and according to dementia diagnosis. Methods Data were collected during 2 waves of Delirium Day, a multicenter delirium prevalence study including patients (aged 65 years or older) admitted to acute and long-term care wards in Italy (2015-2016); in this study, only patients enrolled in acute hospital wards were selected (n = 4,133). Delirium was assessed according to score on the 4 "A's" Test. Prescriptions were classified by main drug categories; polypharmacy w…

Causes and place of death in Italian patients with amyotrophic lateral sclerosis

Objectives - To determine the causes and place of death in a cohort of Italian patients with amyotrophic lateral sclerosis (ALS). A better understanding of the likely causes of death in ALS might improve the palliative care at the end-of-life, whereas knowing the place of death will help to verify the need for highly specialized care services, e.g. hospice and nursing home. Patients and methods - Between 2000 and 2008, 182 ALS patients (onset: spinal, 127; bulbar, 55; M/F: 1.6) were followed in a single ALS Tertiary Centre in Palermo, Sicily, Italy until death. Medical data for each individual patient were recorded in a large database throughout the disease course. Information concerning ca…

"Delirium Day": a nationwide point prevalence study of delirium in older hospitalized patients using an easy standardized diagnostic tool

Background To date, delirium prevalence in adult acute hospital populations has been estimated generally from pooled findings of single-center studies and/or among specific patient populations. Furthermore, the number of participants in these studies has not exceeded a few hundred. To overcome these limitations, we have determined, in a multicenter study, the prevalence of delirium over a single day among a large population of patients admitted to acute and rehabilitation hospital wards in Italy. Methods This is a point prevalence study (called “Delirium Day”) including 1867 older patients (aged 65 years or more) across 108 acute and 12 rehabilitation wards in Italian hospitals. Delirium wa…

The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey

IntroductionPrevious studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer’s disease and other dementias, and evaluated caregivers’ distress during COVID-19 quarantine.MethodsThe study involved 87 Italian Dementia Centers. Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after …

A single case study of primary progressive aphasia: progressive improvement in verb production after rTMS treatment. Abstracts del XXXVII Congresso della Società Italiana di Neurologia Neurol Sci 2006, Suppl. 27, S236

Identification of three novel progranulin mutations in a series of patients affected by sporadic and familial frontotemporal lobar de generation. Platform Presentation

Cerebrospinal fluid tau protein is not a biological marker in amyotrophic lateral sclerosis.

Background:  Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder leading to progressive motor neuron cell death. Etiopathogenesis is still imperfectly known and much effort have been undertaken to find a biological marker that could help in the early diagnosis and in the monitoring of disease progression. Cerebrospinal fluid (CSF) concentrations of tau, an axonal microtubule-associated protein, have been measured in ALS with levels found increased in some studies and unchanged in others. Methods:  Total CSF tau level was assayed in a population of ALS patients (n = 57) and controls (n = 110) using a specific ELISA method. Results:  No significant differences in the median CS…

NEUROPHYSIOLOGIC AND CLINICAL SIGNS OF MOTONEURONAL DEGENERATION IN FRONTOTEMPORAL DEMENTIA

23. Resting state functional magnetic resonance imaging analysis of the brain of pathological gamblers

Purpose Gambling disorder has been recently reclassified under the category “substance-related and addictive disorders”. Recent studies performed through functional MRI (fMRI) have shown that the perseverance of some behaviors can alter brain activation [1] , [2] . In this work we aim at investigating functional connectivity changes in pathological gamblers (PGs) in comparison to healthy controls (HCs) by means of resting state functional Magnetic Resonance Imaging (rs-fMRI). Methods and materials Thirteen HCs and fourteen PGs were recruited (all right handed males; drugs free; mean age 36 ± 10 yrs). All acquisitions were performed through a 1,5 T MRI scanner using a 8-channels phased-array…

Hypo-excitability of cortical areas in patients affected by Friedreich ataxia: A TMS study

The aim of the study was to explore excitability of a motor and a non-motor (visual) area in patients affected by Friedreich ataxia and to correlate neurophysiological data with clinical parameters. Seven patients (3M/4F) and ten healthy controls (5M/5F) participated in the study. The hot-spot for activation of right abductor pollicis brevis was checked by means of a figure-of-eight coil and the motor threshold (MT) on this point was recorded. The phosphene threshold (PT) was measured by means of a focal coil over the occipital cortex as the lower intensity of magnetic stimulation able to induce the perception of phosphenes. The patients showed a significantly higher mean PT (p<.03) and MT …

Frontal dementia related to thalamic stroke: a case report.

Neurogranin as a Reliable Biomarker for Synaptic Dysfunction in Alzheimer’s Disease

(1) Background: Neurogranin is a post-synaptic protein expressed in the neurons of the hippocampus and cerebral cortex. It has been recently proposed as a promising biomarker of synaptic dysfunction, especially in Alzheimer&rsquo;s disease (AD). However, more efforts are needed before introducing it in clinical practice, including the definition of its reference interval (RI). The aim of the study was to establish the RI of cerebrospinal fluid (CSF) neurogranin levels in controls and individuals with non-neurodegenerative neurological diseases; (2) We included a total of 136 individuals that were sub-grouped as follows: AD patients (n = 33), patients with non-neurodegenerative neurological …

FUNCTIONAL CONNECTIVITY MODULATION INDUCED BY TRANSCRANIAL DIRECT CURRENT STIMULATION OF THE MOTOR NETWORK

Background: Brain functions arise from the orchestrated activation and cooperation of networks of regions whose specific relationship varies dynamically across functional states. Resting state functional Magnetic Resonance Imaging (RS-fMRI) analyses focuses on spontaneous low frequency fluctuations (< 0.1 Hz) in the BOLD signal and investigates synchronous activations between regions that are spatially distinct (functional connectivity, FC), occurring in the absence of a task or stimulus. Transcranial Direct Current Stimulation (tDCS) is a non-invasive brain stimulation technique that is known to modulate cortical activity and FC among brain regions, as measured by functional Magnetic Reson…

A single case study of primary progressive aphasia: progressive improvement in verb production after rTMS treatment.

HOMOZIGOUS DJ-1 MUTATION IN A FAMILY FROM SOUTHERN ITALY WITH AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX

Carcinoma of the tongue and bulbar-onset amyotrophic lateral sclerosis: unusual differential diagnosis.

We present a 72-year-old woman with progressive dysphagia, dysarthria and tongue palsy who was initially diagnosed with bulbar-onset amyotrophic lateral sclerosis (ALS). However, the absence of atrophy or fasciculations in the tongue, as in other voluntary muscles, and the lack of reproducible neurophysiological evidence of denervation, prompted a revision of the diagnostic work-up, which eventually led to the discovery of a carcinoma of the tongue. This case report describes a relatively rare type of oropharyngeal carcinoma that, in its early stage, resembled a bulbar-onset ALS. This differential diagnosis is unusual, and it was fostered by the persistent lack of atrophy of the tongue and …

Functional connectivity modulation induced by transcranial direct current stimulation of the motor network: a Resting-State fMRI study

Resting-state functional connectivity represents a novel fMRI approach that allows detection of temporal correlations in spontaneous BOLD signal oscillations while subjects rest quietly in the scanner. Functional connectivity (FC) can be defined as the synchrony of neural activity among spatially distant regions. Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique that is known to modulate cortical activity and FC among brain regions. This study is aimed at measuring the variation of functional connectivity between cortical brain regions after tDCS along time. The temporal concatenation group ICA showed that immediately after anodal stimulation the a…

Increased functional connectivity in gambling disorder correlates with behavioural and emotional dysregulation: Evidence of a role for the cerebellum

Gambling disorder (GD) is a psychiatric disease that has been recently classified as a behavioural addiction. So far, a very few studies have investigated the alteration of functional connectivity in GD patients, thus the concrete interplay between relevant function-dependent circuitries in such disease has not been comprehensively assessed. The aim of this research was to investigate resting-state functional connectivity in GD patients, searching for a correlation with GD symptoms severity. GD patients were assessed for gambling behaviour, impulsivity, cognitive distortions, anxiety and depression, in comparison with healthy controls (HC). Afterwards, they were assessed for resting-state f…

Evaluation of Alpha-Synuclein Cerebrospinal Fluid Levels in Several Neurological Disorders

(1) Background: Alpha-synuclein (&alpha;-syn) is a presynaptic neuronal protein that regulates several neuronal functions. In recent decades, the role of &alpha;-syn as a biomarker of neurodegenerative diseases has been explored, especially in synucleinopathies. However, only a few studies have assessed its role as biomarker in other neurological disorders. The aim of the study was to evaluate cerebrospinal fluid (CSF) &alpha;-syn levels in several neurological disorders; (2) Methods: We measured CSF &alpha;-syn levels by a commercial ELISA kit in 158 patients classified in the following group: controls, Alzheimer&rsquo;s Disease (AD), cerebrovascular diseases, inflammatory central nervous …

Psychosis as adverse effect of cholinesterase inhibitors: two case reports of probable Alzheimer disease in treatment with galantamine

P3‐214: Identification of three novel progranulin mutations in a series of patients affected by sporadic and familial frontotemporal lobar degeneration

Tau protein as a diagnostic and prognostic biomarker in amyotrophic lateral sclerosis

BACKGROUND AND PURPOSE To test the hypothesis that total tau (tTau), tau phosphorylated at threonine 181 (pTau) and pTau/tTau ratio in the cerebrospinal fluid (CSF) are diagnostic and prognostic biomarkers of amyotrophic lateral sclerosis (ALS), we performed a retrospective observational study in a large cohort of ALS patients and controls. METHODS We enrolled 196 ALS patients and 91 controls, who included patients with ALS-mimicking diseases and those with non-neurodegenerative diseases. All patients underwent lumbar puncture for CSF analysis at the time of the diagnostic evaluation or to first referral. We measured tTau and pTau levels in the CSF by chemiluminescence enzyme immunoassay. R…

Is the focal signal hyperintensity within the capsula interna on MRI a marker of CST degeneration?

Rey-Osterrieth Complex figure performance in patients with degenerative dementia using Boston Qualitative Scoring System

The default mode network and the working memory network are not anti-correlated during all phases of a working memory task

INTRODUCTION:\ud \ud The default mode network and the working memory network are known to be anti-correlated during sustained cognitive processing, in a load-dependent manner. We hypothesized that functional connectivity among nodes of the two networks could be dynamically modulated by task phases across time.\ud METHODS:\ud \ud To address the dynamic links between default mode network and the working memory network, we used a delayed visuo-spatial working memory paradigm, which allowed us to separate three different phases of working memory (encoding, maintenance, and retrieval), and analyzed the functional connectivity during each phase within and between the default mode network and the …

POST-THALAMOTOMY NEUROFUNCTIONAL FINDINGS ON PATIENTS TREATED WITH TRANS-CRANIAL MAGNETIC RESONANCE GUIDED FOCUSED ULTRASOUND SURGERY (TCMRGFUS): PRELIMINARY RESULTS

BACKGROUND AND PURPOSE: We present functional connectivity (FC) changes found in the very first patients treated with the first Italian installation of a trans-cranial MRI-guided Focused Ultrasound Surgery (tcMRgFUS) certified system for functional neurosurgery. TcMRgFUS is a promising new technique for non-invasive treatment of neurologic disorders such as Essential Tremor, tremor associated to Parkinson's Disease and Neuropathic Pain. TcMRgFUS is able to focally target and destroy specific regions in the brain through intact skull, by using a high intensity focused ultrasound beam. Resting state functional Magnetic Resonance Imaging (RS-fMRI) analyses focuses on spontaneous low frequency …

Guillain-Barré Syndrome

Background: Guillain–Barré syndrome is a rare disorder in which our body’s immune system attacks nerves determining weakness and tingling of extremities as first symptoms. It can also be associated to respiratory failure and require mechanical ventilation during hospitalization (up to 30% of patients). Nowadays patient’s hyper-reactive immune responses benefits from immunotherapies such as intravenous immunoglobulin (IVIg), therapeutic plasma exchange (TPE) and new biological drugs. Case Report: We report our experience with the case of a 64-year-old woman who presented a symmetric progressive flaccid paralysis after a week of mild cold symptoms. The respiratory and neurological symptoms wo…

Neurogranin as a Novel Biomarker in Alzheimer's Disease

Abstract Background In this study, we investigated the possible role of 2 novel biomarkers of synaptic damage, namely, neurogranin and α-synuclein, in Alzheimer disease (AD). Methods The study was performed in a cohort consisting of patients with AD and those without AD, including individuals with other neurological diseases. Cerebrospinal fluid (CSF) neurogranin and α-synuclein levels were measured by sensitive enzyme-linked immunosorbent assays (ELISAs). Results We found significantly increased levels of CSF neurogranin and α-synuclein in patients with AD than those without AD. Neurogranin was correlated with total tau (tTau) and phosphorylated tau (pTau), as well as with cognitive declin…

FOCAL SIGNAL-INTENSITY VARIATIONS IN THE POSTERIOR ARM OF THE INTERNAL CAPSULE IN CONVENTIONAL MRI

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson’s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation (g.168_185dup) in the promoter region of this gene in living affected subjects

D-TMS IN COCAINE ADDICTION: preliminary findings

Cocaine-related disorders are currently among the most devastating mental disease as they leads to profound disturbances in an individual’s behaviour resulting in tremendous economic, social, and moral costs. Imaging studies in human have shown a reduction of dopamine (DA) receptors accompanied by a lesser release of endogenous DA in the ventral striatum (AVT) of cocaine subjects thereby resulting in a ‘dopamine-impoverished’ brain[1-2]. This perturbations lead to neuroadpatations in several other circuits which are related to motivation, inhibitory control, and memory which finally determ compulsive-impulsive self drug administration[3]. The lasting reduction in physiological activity of t…

TRANSCRANICAL MAGNETIC STIMULATION IN COCAINE ADDICTION:PRELIMINARY FINDINGS

Drug addiction is a brain disease which leads to profound disturbances in an individual’s behaviour. In spite of the progress made in the understanding of the neurobiological mechanisms underlying addiction, expectations from a therapeutic point of view have not been satisfying. Given the modest efficacy of therapeutic tools available, Transcranial Magnetic Stimulation (TMS) seems to be a promising “non-pharmacologic” aid in various neuropathologies including addiction which is characterized by a decrease of dopaminergic activity (DA). Thus, ‘restoring’ pre-pathology DA activity may yield clinical benefits in addicts. In particular, it has been reported that TMS reduces the craving for coca…