Purpose To assess quality of life (QoL) in adult people with epilepsy (PWE) and identify the main factors affecting it. Methods We enrolled consecutively 122 PWE. They were interviewed for a careful collection of demographic and clinical data. Patients completed dedicated questionnaires for the assessment of the quality of life (Quality of Life in Epilepsy Scale-31) (Q31) as well as psychosocial features:

Background Due to the improved clinical management of aging population and the consequently declined mortality among patients with critical illnesses, the number of survivors from intensive care units (ICUs) keeps rising. Studies to examine the association of cognitive impairment analgesic and sedation strategies would be beneficial to improve the quality of life of ICU survivors. Methods A prospective

Introduction The COVID-19 outbreak highly impacted the acute ischemic stroke care management. The primary end point of the study was to evaluate the impact of the COVID-19 outbreak and the following lockdown measures on our hub-and-spoke network; the secondary end point was to evaluate if the impact of the COVID-19 outbreak was different in hub-and-spoke centers. Methods This was a retrospective multicenter

Introduction Mild cognitive impairment (MCI) is common in Parkinson’s disease (PD), but the underlying pathological mechanism has not been fully understood. Voxel-based morphometry could be used to evaluate regional atrophy and its relationship with cognitive performances in early PD-MCI. Patients and Methods One hundred and six patients with PD were recruited from a larger cohort of patients, the

Background Recognition of secondary movement disorders (SMDs) is fundamental either to alleviate disabling disturbances or to treat potentially life-threatening conditions, such as brain tumors. Primary CNS lymphoma (PCNSL) is a rare form of CNS cancer that is often located in subcortical areas, accounting for both neuropsychiatric and motoric disorders. Nevertheless, an overview on PCNSL-related movement

Objective To investigate in different stages of patients with Wilson disease (WD), there are different pathogenic factors such as metal deposition, oxidative stress, and inflammatory response in the brain. Methods A total of 32 untreated WD patients and 10 normal controls were enrolled in the study. The neurological symptoms were evaluated using the modified Young scale. Liver function, metal metabolism

Background During Covid-19 pandemic, the Italian government adopted restrictive limitations and declared a national lockdown on March 9, which lasted until May 4 and produced dramatic consequences on people’s lives. The aim of our study was to assess the impact of prolonged lockdown on behavioral and psychological symptoms of dementia (BPSD). Methods Between April 30 and June 8, 2020, we interviewed

Introduction Factors influencing self-perceived health status over Corona Virus Disease 2019 (COVID-19) emergency in vulnerable populations, such as patients with chronic neurological diseases, are still unknown. In this work, we aimed at testing whether clinical care changes imposed by the quarantine, together with certain demographic and disease-specific features, might have determined a self-perceived

Objective To study the predictive effect on YCH patients complicated with LEDVT by PLR and DFR combined with WELLS score. Materials and methods A total of 109 patients with YCH were selected as the research subjects. Patients with combined LEDVT were in the thrombosis group (33 cases), and without LEDVT in the non-thrombosis group (76 cases). Wells score was used to evaluate the vascular of the lower

Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene. This retrospective study aims to evaluate the clinical manifestations and brain magnetic resonance images (MRI) analysis in 60 genetically confirmed NF1 patients. The results of next-generation sequencing (NGS), Sanger sequencing, and MLPA of NF1 gene were evaluated. A total of 54 different variants were identified. Fourteen out

Introduction Drooling is characterized by an excessive pooling of saliva in the oral cavity. The exact pathophysiological mechanism of drooling in Parkinson’s disease (PD) is not yet fully understood. Objective To identify the relationship between drooling and other clinical features in people diagnosed with PD. Method Research on the topic was carried out on the PubMed and ScienceDirect electronic

The Dynactin 1 (DCTN1) encodes the p150 subunit of dynactin, which engages retrograde axonal transport. Missense mutations in DCTN1 have been linked to a series of neurodegenerative diseases, including distal hereditary motor neuropathies (dHMN) and Perry syndrome. A few pathogenic DCTN1 mutations related with Perry syndrome have been described within, or adjacent to, the highly conserved N-terminal

Background Parkinson’s disease (PD) is considered a neurological disease with a high prevalence rate among population. One of its main problems is recurrent fall which has numerous contributing factors such as history of fall, fear of falling, gait deficits, impaired balance, poor functional mobility, and muscle weakness. Objective To review and explore the focus/nature of interventions which target

The ongoing COVID-19 pandemic is having a huge impact on clinical activity of all hospitals, including the ones involved in training of residents. In addition, neurology residents underwent substantial modifications of their training program. Aim of our investigation was to evaluate the impact of COVID-19 pandemic on the educational activities of Italian neurology residents through an online questionnaire

Background and purpose Initial cardiovascular fingolimod effects might compromise baroreflex responses to rapid blood pressure (BP) changes during common Valsalva-like maneuvers. This study evaluated cardiovascular responses to Valsalva maneuver (VM)-induced baroreceptor unloading and loading upon fingolimod initiation. Patients and methods Twenty-one patients with relapsing-remitting multiple sclerosis

Introduction Up to one-third of ischemic strokes remained cryptogenic despite extensive investigations. Atrial fibrillation may be detected in a significant proportion of patients with embolic stroke of undetermined source, particularly after the introduction of implantable loop recorder in clinical practice. Methods We retrospectively included all the consecutive patients with embolic stroke of undetermined

Multidisciplinary care (MDC) has been the most recommended approach for symptom management in amyotrophic lateral sclerosis (ALS) but there is conflicting evidence about its effectiveness on survival and quality of life (QoL) of ALS patients. We conducted a systematic review to determine the effects of multidisciplinary care compared to general neurological care in survival and quality of life of ALS

Purpose The mild cognitive impairment (MCI) is a neurocognitive disorder which involves cognitive impairments beyond those expected for the age and education of the subject but are not significant enough to interfere with instrumental activities of daily living. The identification of individuals with MCI is particularly important for those who might benefit from new therapies. The aim of this work

Background Migraine is one of the most common disabling diseases in the world. Its recurrent attacks may lead to abnormalities in the structure of the brain and retina. An increasing number of studies have investigated retinal nerve fiber layer (RNFL) thickness alterations in migraine by the optical coherence tomography (OCT); however, no consensus has yet reached. Method We searched Pubmed, Embase

Background: Congenital myasthenic syndrome (CMS) is a heterogeneous group of rare disorders with impaired neuromuscular transmission caused by genetic defects, which is characterized by fatigable muscle weakness. Case presentation: Herein, we report a case of limb-girdle CMS (LG-CMS) in a 15-year-old Chinese girl with limb weakness and mild ptosis. The patient presented with well-defined clinical manifestations

Background and aim Peginterferon beta-1a (Plegridy) offers the advantage of a prolonged half-life with less-frequent administration and a higher patient adherence. However, the use of an interferon may lead to flu-like symptoms (FLS) and injection-site reactions (ISR) that results in drug discontinuation. The objective of this Delphi analysis was to obtain consensus on the characteristics and management

Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders which involve the corticospinal tracts and present with distinct spasticity and weakness of the lower extremities. The estimated prevalence of HSP is around 1.8/100,000 cases for both autosomal dominant and autosomal recessive types. Classification of HSP is based on inheritance pattern, clinical phenotype, and molecular

Objectives To investigate the rates of diabetes mellitus (DM) and impaired fasting glucose (IFG) in a population-based sample of individuals aged 75 + years old and their associations with cognitive performance, depression, functionality, and quality of life (QoL). Study design Overall, 350 people participated in the study. Assessments of cognition, mood, functionality and QoL were performed using

Objective To compare the presence of allodynia, pain catastrophizing, and the impact of headaches on patients with cluster headache (CH) and healthy individuals. Our second aim was to analyze the relationship between catastrophism, psychological comorbidities, and the impact in CH. Methods We designed this cross-sectional study to compare various factors among 47 patients diagnosed with CH and 40 healthy

Background The central governor model putatively explains the mechanism of endurance exercise-induced central fatigue, however high-intensity exercise-induced central fatigue strategies have not been investigated yet. This study aimed to examine how central fatigue affects neural response alterations, as measured by electroencephalographic (EEG) recordings, in intermittent high-intensity cycling. Methods

The COVID-19 outbreak has had a dramatic impact on the healthcare system due to the rapid, worldwide spread of the virus, highlighting several considerations on the best management of infected patients and also potential risks and prognostic factors in patients with pre-existing chronic diseases exposed to the virus. Neurodegenerative disorders are known to be chronic, disabling diseases that imply

Background Vincristine (VCR), which is a key component of chemotherapy, is important for survival. VCR is associated with a well-known side effect, including neurotoxicity. Aims The aim of this study was to evaluate the features of vincristine-induced peripheral neuropathy (VIPN) and the effectiveness of pyridoxine plus pyridostigmine therapy in children with acute lymphoblastic leukemia. Methods The

Background Recessive mutations in the SLC4A4 gene cause a syndrome characterised by proximal renal tubular acidosis (pRTA), mental retardation, dental and ocular abnormalities, and hemiplegic migraine. Rare cases involving the development of epilepsy or its severe complication—status epilepticus—have been described. Methods The clinical and genetic status of four affected members in a Spanish family

Objective Scarce data are available regarding the proportion of drugs that have provoked new-onset seizures. The aim of this study was to investigate the types of causative drugs of drug-induced new-onset seizures in a relatively large population of patients who were admitted to our epilepsy monitoring unit. Methods Using a hospital-based database, patients with new-onset seizures were selected and

Introduction This study investigated the characteristics of double-seropositive myasthenia gravis (DSP-MG) in southern China for disease subtype classification. Methods A case-control study was carried out in which the characteristics of DSP-MG patients (n = 17) were compared to those of muscle-specific tyrosine kinase antibody-positive (MuSK)-MG and acetylcholine receptor antibody-positive (AChR)-MG

Objective There is scarce data on B cell lymphoma 2 (Bcl2), a member of the Bcl-2 family of antiapoptotic molecules of the intrinsic apoptosis pathway, in patients with spontaneous intracerebral hemorrhage (SIH). In one study, higher serum Bcl2 levels were found in patients with SIH than in healthy subjects. Thus, the objective of our study was to compare serum Bcl2 levels in surviving and non-surviving

Inflammatory reactions in the body have been shown to contribute to migraine development. Therefore, genes involved in the inflammatory pathways might play a role in the susceptibility and development of migraine. In this study, polymorphisms in tumor necrosis factor alpha (TNFα) and lymphotoxin alpha (LTA) genes were tested for association with migraine. A total of 398 participants (198 migraine patients

Introduction The pandemic has implemented the need for new digital technologies as useful tools during the emergency and the long recovery phase that will follow. SARS-CoV-2 has strongly impacted stroke care with significant contraction in a number of patients treated. Methods This mini-review is an initiative of the “Digital Technologies, Web and Social Media Study Group” of the Italian Society of

Objectives To assess the quality of preclinical evidence for mesenchymal stromal cell (MSCs) therapy of amyotrophic lateral sclerosis (ALS), decide the effect size of MSCs treatment, and identify clinical parameters that associate with differences in MSCs effects. Methods A literature search identified studies of MSCs in animal models of ALS. Four main indicators (age of onset, disease progression

Lynch syndrome (LS) is an autosomal dominant inherited disease caused by germline mutations in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2, which predisposes patients to various malignant neoplasms. Previous studies showed that MLH1, MSH2, MSH6, and PMS2 mutation in LS were associated with an elevated risk of colorectal, gastric, endometria, ovarian, and other cancers among

Background Optical coherence tomography angiography (OCTA) is a novel and noninvasive technique for the quantitative assessment of retinal microvascular perfusion. Since the retinal and cerebral small vessels share similar embryological origins, anatomical features, and physiological properties, altered retinal microvasculature might provide a new perspective on the mechanisms of cerebral small vessel

The outbreak of a severe acute respiratory syndrome caused by a novel coronavirus (COVID-19), has raised health concerns for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), who are frequently on long-term immunotherapies. Treatment with IVIg does not increase the risk of contracting COVID-19, and the IVIg administration may have a protective role. However, infusions

Background Literature showed the effects of music therapy on behavioral disturbances, cognitive functions, and on quality of life in people with dementia. Especially, relational active music therapy approach is oriented to reduce behavioral disturbances increasing communication, especially non-verbal communication. Objective This study aimed at exploring the connection between the baseline characteristics

SARS-CoV-2 infection, resulting in Coronavirus disease 2019 (COVID-19), has significantly affected the entire world. It was labelled a pandemic by World Health Organization. Although it commonly produces respiratory symptoms, neurological features have been described. Neurological manifestations may vary from non-specific symptoms such as headache, dizziness, myalgia and/or fatigue, olfactory or taste

Background There was a significant decrease in stroke admissions during the first phase of the COVID-19 pandemic. There are concerns that stroke patients have not sought medical attention and in the months after the lockdown suffer recurrent severe strokes. The aims of this study were to investigate how stroke admission rates and distributions of severity varied before, during and after the lockdown

Objective To investigate the relative frequency of olfactory aura in a large number of patients with focal epilepsy, and examine the full clinical spectrum of epileptic olfactory auras (OAs) and their relationship to hemispheric lateralization and localization of epileptogenic focus. Methods This retrospective study was based on the medical records of 1384 patients with focal epilepsy. Of these, 71

Background and objectives Migraine is an episodic disorder that is characterized by unilateral headache lasting 4–72 h along with certain associated features. Modifying dietary habits have been considered an appropriate therapeutic approach in these patients. This study was designed to examine the association between dietary diversity score (DDS) and severity, frequency, and duration of migraine attacks

Background Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis (AE) is a common cause of nonviral infectious encephalitis, which can be triggered by herpes simplex virus infection. Previous studies have shown that approximately 27% of herpes simplex encephalitis (HSE) patients produce anti-NMDAR antibodies within 3 months. Immunotherapy is recommended in this situation, but some symptoms usually

ALS2 gene encoding for alsin protein is responsible for neurological disorders due to retrograde degeneration of the upper motor neurons of the pyramidal tracts, inherited in an autosomal recessive manner, and displaying a clinical continuum including the infantile ascending hereditary spastic paraplegiaidentified in three Spanish children presented here.

Introduction Idiopathic systemic capillary leak syndrome (ISCLS) is a rare cryptogenic disorder characterized by recurrent hemoconcentration, hypoalbuminemia, edema, and hypotension due to extravascular fluid leakage. This is the first report that details uncommon extensive leukoencephalopathy caused by ISCLS upon a neuropathological investigation. Case report A 68-year-old female had recurrent episodes

Objective Genes and environment contribute to the multifactorial etiology of autoimmune diseases. Familial clusters of autoimmune diseases are often observed among first-degree relatives sharing the same genetic background and environmental exposure. Rarer is the occurrence of the same autoimmune diseases in non-consanguineous spouses. We hereinafter report two non-consanguineous spouses who developed

Introduction Healthy elderly, mild cognitive impairment and Alzheimer’s disease populations have been among the most affected in the early stages of the COVID-19 pandemic due to the direct effects of the virus, and numerous indirect effects now emerge and will have to be carefully assessed over time. Methods This article reviews the main articles that have been published so far about the direct and

Background and purpose The COVID-19 pandemic has impacted the reperfusion therapy for acute ischemic stroke (AIS) patients. Huizhou City utilized its experience with the SARS and MERS breakouts to establish a reperfusion treatment program for AIS patients. Method This is a retrospective study on 8 certified stroke hospitals in Huizhou City from January 2020 to May 2020. We analyzed the number of AIS

Some multiple sclerosis (MS) lesions may have great similarities with neoplastic brain lesions in magnetic resonance (MR) imaging and thus wrong diagnoses may occur. In this study, differentiation of MS and low-grade brain tumors was performed with computer-aided diagnosis (CAD) methods by magnetic resonance spectroscopy (MRS) data. MRS data belonging to 51 MS and 39 low-grade brain tumor patients

Dementia and hearing loss share radiologic and biologic findings that might explain their coexistence, especially in the elderly population. Brain atrophy has been observed in both conditions, as well as the presence of areas of gliosis. The brain atrophy is usually focal; it is located in the temporal lobe in patients with hearing loss, while it involves different part of brain in patients with dementia

Objective To describe the clinical, neurological, neuroimaging, and cerebrospinal fluid (CSF) findings associated with encephalopathy in patients admitted to a COVID-19 tertiary reference center. Methods We retrospectively reviewed records of consecutive patients with COVID-19 evaluated by a consulting neurology team from March 30, 2020 through May 15, 2020. Results Fifty-five patients with confirmed

Background Observational studies suggest that physical activity (PA) can independently modify the risk of developing multiple sclerosis (MS). Objective To investigate the causal effect of PA on MS by Mendelian randomization (MR) approaches. Methods Through a genome-wide association study including 91,105 participants from UK Biobank, we obtained 5 single-nucleotide polymorphisms (SNPs) associated with

Introduction The aim of this study is to investigate the influence of white matter hyperintensity (WMH) on stroke severity and prognosis in patients with symptomatic carotid artery stenosis. Methods Patients with symptomatic carotid artery stenosis were retrieved from the Samsung Medical Center stroke registry from January 2011 to December 2016. Stroke severity was categorized into three levels according

Background Altered corticospinal excitability in Parkinson’s disease (PD) is related to many of the motor signs. Objective We examined whether the recruitment properties of the corticospinal pathway to hand muscles are changed after 8 weeks of specialized upper limbs exercise in PD. Methods Seven PD subjects were enrolled. Upper limb exercise was achieved by using a specially designed device. The input–output

This study aims to compare the levels of NLRP3 inflammasome and its related cytokines (IL-1β, IL-6, and IL-17), in serum and cerebrospinal fluid (CSF) of patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), non-inflammatory chronic polyneuropathy, and functional neurological disorders. The results showed elevated NLRP3 inflammasome, IL-1β, IL-6, and IL-17 levels in serum

Both intrinsic and extrinsic motivation are believed to involve brain regions that are innervated by the dopaminergic pathway. Although dopaminergic neurons in the midbrain deteriorate in Parkinson’s disease (PD), it remains unclear whether intrinsic motivation is impaired in PD patients. To address this issue, we investigated intrinsic motivation in PD patients using a task designed to assess the

Purpose Patients affected with multiple sclerosis suffer from depression more frequently than the general population. Beyond psychosocial, genetic and immune-inflammatory factors, also the brain damage which is peculiar of multiple sclerosis has been claimed to have a role in the aetiology of depression in those patients. The study of this interesting relation has been implemented with both conventional

Background Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is an autoimmune encephalitis caused by antibodies targeting the GluN1 subunit of NMDA receptors. Myelin oligodendrocyte glycoprotein (MOG) antibody disorders are now widely accepted as peculiar neuroimmunological diseases with specific clinical and pathological features. Some rare cases of overlapping anti-NMDA receptor encephalitis

Objective Sighing is a common symptom in children and adolescents. In this study, we explored the clinical characteristics and hemodynamic responses to head-up tilt test (HUTT) in children and adolescents with unexplained sighing. Methods One hundred ninety-two children and adolescents complaining of unexplained sighing were enrolled as study group after excluding chest wall, lung, heart diseases,