Tumors preceding ALS onset and ALS: results from a case-control study.

Determinants of depressive symptoms among spouse caregivers of patients with Parkinson's disease

COGNITIVE IMPAIRMENT IN PATIENTS WITH PARKINSON’S DISEASE

Search for genetic factors associated with susceptibility to multiple sclerosis.

Multiple sclerosis (MS) is a cell-mediated autoimmune disease characterized by type-1 cytokine production. Environmental and individual genetic background might influence this response particularly in cytokine gene polymorphisms. We evaluated whether polymorphisms of interleukin (IL)-10, IL-12, and tumor necrosis factor (TNF)-alpha genes, which might play a role in MS pathogenesis, are associated with MS susceptibility. Genotype frequencies for all the analyzed polymorphisms were not differently distributed between cases and controls. It is reasonable to suppose that the cytokine single-nucleotide polymorphisms (SNPs) studied must be considered against a larger genetic background involving …

A multicenter survey on access to care in Multiple Sclerosis-related trigeminal neuralgia

The prevalence of trigeminal neuralgia (TN) in patients with Multiple Sclerosis (MS) is higher than in the general population and its management can be particularly challenging due to a number of reasons including high recurrence rates, lack of MS-specific treatment guidelines and uncertainties about pain pathophysiology. Aim of this cross-sectional, multicentre survey was to gather information on the current treatment modalities and options of MS-related TN across 23 Italian MS centres. Initial medical management (carbamazepine or oxcarbazepine) of MS-related TN was fairly homogeneous throughout Italian centres. The most commonly available surgical procedure was microvascular decompression…

Lack of association between estrogen receptor 1 gene polymorphisms and multiple sclerosis in southern Italy in humans

Estrogen receptor 1 gene polymorphisms (ESR1) have been found to be associated with multiple sclerosis (MS) in both Japanese and Finnish populations. We investigated the association between ESR1 polymorphisms (PvuII and XbaI) and MS in a study of 132 MS patients and 129 controls from the same geographic background (southern Italy). Allelic and genotypic frequencies were not different between MS patients and population controls for either the PvuII or XbaI polymorphism. This result suggests that the association between a given disease and a genomic characteristic must be confirmed by separate investigations in different populations. © 2002 Elsevier Science Ireland Ltd. All rights reserved.

Sleep and sleepiness in Parkinson’s disease: result of a “spontaneous” observational study on rotigotine

Efficacy of 12 weeks of proprioceptive training in patients with multiple sclerosis

This pilot study aims to investigate if specific training protocol can improve the quality of life in people with multiple sclerosis through the improvement of some impaired ability like the balance. We enrolled in our project 20 subjects (age: 34,88 ± 4,45; height: 168,25 ± 8,66 cm; weight: 72,31 ± 17,28 kg) but only 5 completed the study. A proprioceptive training was administered for 12 weeks, 2 times a week, an hour for each session. At the beginning (T0) and at the end of the study (T1), static and dynamic balance parameters were tested. Statistical analyzes were performed using IBM SPSS Statistics 22.Changes in balance and strength between T0, T1 were evaluated using t Student test fo…

Clinical features and disease out come in patients with pediatric and young adult onset Multiple Sclerosis

Positive or negative involvement of heat-shock proteins in multiple sclerosis pathogenesis: an overview.

Depression and associated factors among spouse-caregivers of patient with Parkinson’s disease

High Prevalence and Fast Rising Incidence of Multiple Sclerosis in Caltanissetta, Sicily, Southern Italy

<i>Background:</i> Epidemiological studies conducted in Sicily and Sardinia, the two major Mediterranean islands, showed elevated incidence and prevalence of multiple sclerosis (MS)and a recent increase in disease frequency. <i>Objective:</i> To confirm the central highlands of Sicily as areas of increasing MS prevalence and elevated incidence, we performed a follow-up study based on the town of Caltanissetta (Sicily), southern Italy. <i>Methods:</i> We made a formal diagnostic reappraisal of all living patients found in the previous study performed in 1981. All possible information sources were used to search for patients affected by MS diagnosed accordi…

PREGNANCIES MODIFY RELAPSES AND PROGRESSION IN MULTIPLE SCLEROSIS

Height as a potential indicator of early life events predicting Parkinson's disease: a case-control study.

Aim of this study was to investigate the relationship between height in young adult age and Parkinson's disease (PD) risk. We included 266 persons affected by idiopathic PD. Patients were matched by age and sex to 266 controls by a random selection from the municipality of residence. We collected information about height preceding PD from official documents where these characteristics referred to young adult age (nearly 30 years). We compared height in cases and controls by calculating differences in mean distribution and by χ2 analyses. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were calculated by logistic regression models. Mean height was significantly lower in…

Blood levels of homocysteine, cysteine, glutathione, folic acid, and vitamin B12 in the acute phase of atherothrombotic stroke.

Blood levels of total homocysteine (tHcy), cysteine (Cys), total and reduced glutathione (tGSH and rGSH), folic acid (FA), and vitamin B(12) (B(12) change during ischemic stroke as accompaniment of the tissue damage. The relationship between these changes remains scantly investigated. We evaluated the variation of these molecules in the 48 h after acute large artery atherothrombotic stroke (LAAS) and searched for the presence of matched variation of them. The study involved 50 subjects affected by acute LAAS and 49 healthy controls. Plasma levels of tHcy and Cys were significantly higher and serum levels of FA and B(12) and plasma levels of rGSH were significantly lower in the patients than…

Remarkably increasing incidence of Multiple Sclerosis. A follow-up study in calatanissetta, Sicily

Primary Progressive and progressive relapsing multiple sclerosis show different clinical and instrumental findings and disability progression? A comparison study on a Sicilian database

Epidemiology of multiple sclerosis in Sicily

From epidemiological data obtained over more than 20 years by surveys conducted in different parts of Sicily, it is evident that Sicily is a high-risk area for multiple sclerosis (MS). This is in sharp contrast with the gradient hypothesis. High frequencies have been found in different parts of the island having different geoclimatic features, but at least two cities (Monreale and Enna) had had a prolonged Norman domination. This is in agreement with the hypothesis that MS originated in Northern Europe and spread around the world throughout the raids of the northern peoples. The increase in frequency estimated by follow-up and incidence studies is well established and is only in part linked…

INFLUENCE OF REPETITIVE TRANSCRANIAL MAGNETIC STIMULATION (RTMS) ON ACTION TREMOR IN MULTIPLE SCLEROSIS PATIENTS

Klotho and vitamin D in multiple sclerosis: an Italian study

Introduction Low vitamin D levels have been recognised as an important risk factor for autoimmune diseases, including multiple sclerosis (MS). MS is a multifactorial disease, the pathogenesis of which contributes both to genetic and environmental factors. Polymorphisms in genes codifying molecules involved in vitamin D homeostasis have been associated with hypovitaminosis D. However, the influence of polymorphisms of Klotho, which codify a protein with a pivotal role in vitamin D metabolism, have never been investigated. The aim of this study was to evaluate the association among genetic variants of Klotho, namely rs1207568 and rs9536314, serum 25(OH)D3 levels, and multiple sclerosis (both …

Disability assessment using Google Maps.

Objectives To evaluate the concordance between Google Maps® application (GM®) and clinical practice measurements of ambulatory function (e.g., Ambulation Score (AS) and respective Expanded Disability Status Scale (EDSS)) in people with multiple sclerosis (pwMS). Materials and methods This is a cross-sectional multicenter study. AS and EDSS were calculated using GM® and routine clinical methods; the correspondence between the two methods was assessed. A multinomial logistic model is investigated which demographic (age, sex) and clinical features (e.g., disease subtype, fatigue, depression) might have influenced discrepancies between the two methods. Results Two hundred forty-three pwMS were …

Natalizumab therapy of relapsing-remitting multiple sclerosis: an evaluation of the safety profile and a comparison of efficacy with interferon beta therapy

Levetiracetam in the treatment of vascular chorea: a case report

Risk of Persistent Disability in Patients With Pediatric-Onset Multiple Sclerosis

Importance Availability of new disease-modifying therapies (DMTs) and changes of therapeutic paradigms have led to a general improvement of multiple sclerosis (MS) prognosis in adults. It is still unclear whether this improvement also involves patients with pediatric-onset MS (POMS), whose early management is more challenging. Objective To evaluate changes in the prognosis of POMS over time in association with changes in therapeutic and managing standards. Design, Setting, and Participants Retrospective, multicenter, observational study. Data were extracted and collected in May 2019 from the Italian MS Registry, a digital database including more than 59 000 patients. Inclusion criteria were…

EXTRACELLULAR VESICLES IN CEREBROSPINAL FLUID AS MARKERS OF CNS INFLAMMATION

mRNA COVID-19 vaccines do not increase the short-term risk of clinical relapses in multiple sclerosis

Multiple sclerosis (MS) is a chronic, immune-mediated disorder of the central nervous system. A novel coronavirus, namely SARS-CoV-2, has been recently responsible for the highly infectious disease referred as COVID-19, rapidly spreading all over the world. Many vaccines have been developed to control COVID-19 pandemic, including the mRNA vaccines Pfizer/BioNTech (BNT162b2) and Moderna (mRNA1273).1 The vaccination of people with MS (pwMS) has been recommended by several national and international MS societies. However, effectiveness and safety of anti-COVID-19 mRNA vaccines in MS need to be confirmed. The aim of this study was to evaluate the short-term risk of clinical relapses in pwMS in …

Analisi dei Polimorfismi di Citochine Th2 nella Sclerosi Multipla.

Polycistic ovary syndrome and antiepileptic drugs: a cross-sectional study

Harmonization of real-world studies in multiple sclerosis: Retrospective analysis from the rirems group

Background: Worldwide multiple sclerosis (MS) centers have coordinated their efforts to use data acquired in clinical practice for real-world observational studies. In this retrospective study, we aim to harmonize outcome measures, and to evaluate their heterogeneity within the Rising Italian Researchers in MS (RIReMS) study group. Methods: RIReMS members filled in a structured questionnaire evaluating the use of different outcome measures in clinical practice. Thereafter, thirty-four already-published papers from RIReMS centers were used for heterogeneity analyses, using the DerSimonian and Laird random-effects method to compute the between-study variance (τ2). Results: Based on questionna…

A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

Abstract Background Over 200 genetic loci have been associated with multiple sclerosis (MS) explaining ~ 50% of its heritability, suggesting that additional mechanisms may account for the “missing heritability” phenomenon. Objective To analyze a large cohort of Italian individuals to identify markers associated with MS with potential functional impact in the disease. Methods We studied 2571 MS and 3234 healthy controls (HC) of continental Italian origin. Discovery phase included a genome wide association study (1727 MS, 2258 HC), with SNPs selected according to their association in the Italian cohort only or in a meta-analysis of signals with a cohort of European ancestry (4088 MS, 7144 HC)…

“Better explanations” in multiple sclerosis diagnostic workup

BackgroundThe exclusion of other diseases that can mimic multiple sclerosis (MS) is the cornerstone of current diagnostic criteria. However, data on the frequency of MS mimics in real life are incomplete.MethodsA total of 695 patients presenting with symptoms suggestive of MS in any of the 22 RIREMS centers underwent a detailed diagnostic workup, including a brain and spinal cord MRI scan, CSF and blood examinations, and a 3-year clinical and radiologic follow-up.FindingsA total of 667 patients completed the study. Alternative diagnoses were formulated in 163 (24.4%) cases, the most frequent being nonspecific neurologic symptoms in association with atypical MRI lesions of suspected vascular…

Clinical features, disease course and prognosis in patients with paediatric and young adult onset multiple sclerosis

Background. Multiple sclerosis (MS) patients develop their first symptoms before adolescence approximately in 5%. Studies comparing clinical and prognostic characteristics in early onset MS, did not show homogeneous results. Objective. Aim of this study was to investigate characteristics of early onset MS patients and compare them with patients who experienced MS onset later. Methods. MS patients diagnosed as affected by MS according to Poser's criteria, were included if they experienced symptoms onset before age 25. They were classified in three groups. Group A: patients who had their onset until they were 16 years old Group B: individuals with onset between 17 and 20 yearsGroup C: patient…

Use of antiepileptic drugs in women with polycystic ovary syndrome

Teaching Research Methods to Young Neurologists: The Erice International Courses.

No

A SPG4 GENE MUTATION CAUSES AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA IN AN ITALIAN FAMILY

Lifestyle factors and multiple sclerosis: a case control study

A population-based survey of cognitive performance in a Sicilian elderly community.

<i>Background:</i> The global burden of neurodegenerative diseases is increasing. Previous studies reported differences related to age, gender and socioeconomic status. We calculated the cognitive performances of a Sicilian population aged 65 years or older, by means of a door-to-door population-based survey in Bagheria city, Sicily. <i>Methods:</i> A door-to-door survey was carried out in the city of Bagheria, Sicily (prevalence day September 30, 2006). A cohort of 2,200 persons was randomly stratified, obtaining a 25% sample of the whole population. Cognitive function was assessed by Mini Mental State Examination (MMSE). Percentile distributions by age, gender, edu…

MRI abnormalities following repeated and incoming seizures

Neuroimaging, an important diagnostic tool frequently used in the evaluation of patients with epilepsy, has mainly the aim to identify structural abnormalities needing a treatment and to contribute to the definition of the aetiology. Brain magnetic resonance imaging (MRI) in epilepsy is more sensitive than computerized tomography (CT) scan for detecting abnormalities. Status epilepticus (SE) and repeated incoming seizures may determine extensive and transient or long lasting pronounced MRI changes. We describe a case of a 41-year-old woman with a history of brain neoplasm, whose contrast-enhanced MRI images following repeated and incoming seizures were characterized either by reversible and…

Dropped head as an unusual presenting sign of myasthenia gravis.

Prominent or isolated weakness of cervical extensor muscles is a relatively rare clinical sign. Commonly, this is known as "dropped-head syndrome". This abnormal flexion of the head may occur in a variety of neuromuscular diseases and in a few non-neurological disorders as well. The case we describe concerns a 61-year-old woman with dropped-head syndrome as the unique complaint of myasthenia gravis.

Real world experience with teriflunomide in multiple sclerosis: the TER-Italy study.

Objective: To identify baseline factors associated with disease activity in patients with relapsing–remitting multiple sclerosis (RRMS) under teriflunomide treatment. Methods: This was an independent, multi-centre, retrospective post-marketing study. We analysed data of 1,507 patients who started teriflunomide since October 2014 and were regularly followed in 28 Centres in Italy. We reported the proportions of patients who discontinued treatment (after excluding 32 lost to follow-up) and who experienced clinical disease activity, i.e., relapse(s) and/or confirmed disability worsening, as assessed by the Expanded Disability Status Scale (EDSS). Decision tree-based analysis was performed to i…

Age at onset of parkinson's disease in women is associated with age at menopause.

Application of tRNS to improve multiple sclerosis fatigue: a pilot, single-blind, sham-controlled study

We evaluated the effects of transcranial random noise stimulation (tRNS) on fatigue in 17 subjects with relapsing–remitting multiple sclerosis with low physical disability. Two different patient groups underwent real or sham stimulation for 10 days, targeting the primary motor cortex of the dominant side or contralateral to the most compromised limb. In the ‘real group’, beneficial effects were observed using the Modified Fatigue Impact Scale (p = 0.04; physical subscale: p = 0.03), the subscales ‘change in health’ (p = 0.006) and ‘role limitations due to physical problems’ (p = 0.001) of the Multiple Sclerosis Quality of Life-54, and by assessing the patient impression of perceived fatigue…

Sleep disturbances and dysautonomic dysfunction are associated in patients with Parkinson’s disease

Cholesterol levels and risk of hemorrhagic transformation after acute ischemic stroke.

<i>Background:</i> The association between cholesterol levels and hemorrhagic transformation (HT) is still controversial. Studies investigating this issue are influenced by treatments as some are characterized by a higher risk of HT. The aim of our study was to evaluate, in a hospital-based series of patients not treated with thrombolysis, the relationship between cholesterol levels and HT. <i>Methods:</i> We retrospectively collected information about total cholesterol (TC) and low-density lipoprotein cholesterol (LDLC) levels at admission in a consecutive series of 240 patients with anterior ischemic stroke (IS). The TC and LDLC levels were arranged in 3 groups acc…

Hypoxanthine and purine compounds in plasma from patients with multiple sclerosis and psoriasis

A case-control study on cigarette, alcohol, and coffee consumption preceding Parkinson's disease

<i>Objective:</i> To investigate the association between cigarette smoking, alcohol drinking, coffee consumption and Parkinson’s disease (PD). <i>Methods:</i> We selected subjects affected by idiopathic PD, with a Mini-Mental State Examination of ≧24, and controls matched 1 to 1 with cases by age (± 2 years) and sex. Controls were randomly selected from the resident list of the same municipality of residence of the cases. We assessed cigarette smoking, alcohol drinking, and coffee consumption preceding the onset of PD or the corresponding time for controls using a structured questionnaire, which also evaluated the duration and dose of exposure. Using conditional logi…

Characteristics and treatment of Multiple Sclerosis-related trigeminal neuralgia: An Italian multi-centre study

Abstract Background The prevalence of trigeminal neuralgia (TN) in Multiple Sclerosis (MS) patients is higher than in the general population and its management can be particularly challenging. Our aim is to describe the characteristics, treatment and prognostic factors of MS-related TN in a retrospective multicentre study. Methods Neurologists members of the RIREMS group (Rising Researchers in MS) enrolled MS patients with a TN diagnosis and filled out a spreadsheet comprising their clinical data. Results Population consisted of 298 patients. First-choice preventive treatments were carbamazepine and oxcarbazepine. A surgical procedure was performed in 81 (30%) patients, most commonly gamma …

Diabetic and non-diabetic subjects with ischemic stroke: Differences, subtype distribution and outcome

Abstract Background and aim Diabetes mellitus increases the risk of stroke, and pathophysiological changes of diabetic cerebral vessels may differ in comparison with non-diabetic ones; nonetheless, the clinical and prognostic profile of stroke in diabetic patients is not yet fully understood. On this basis, the aim of our study was to evaluate cerebrovascular risk factor prevalence in diabetic stroke patients in comparison with non-diabetics, to analyze whether diabetics have a different prevalence of stroke subtypes as classified by the TOAST classification, and determine whether diabetics and non-diabetics have a different prognosis. Methods and results We enrolled 102 diabetics and 204 n…

A post-marketing comparison study on disability modification in progressive multiple sclerosis after interferon beta-1b or mitoxantrone therapy

Multiple sclerosis in southern Europe: Monreale City, Italy. A twenty-year follow-up incidence and prevalence study.

BACKGROUND: Several follow-up studies showed increasing prevalence and incidence rates for multiple sclerosis (MS). OBJECTIVE:To ascertain, throughout a follow-up study, the incidence and prevalence of MS in the city of Monreale, Sicily, southern Italy. METHODS:We calculated crude and age- and sex-specific prevalence rates on December 31, 2000, and determined incidence rates for the period January 1, 1992 to December 31, 2000. RESULTS:The prevalence of MS was 71.2 per 100,000 population (48,5/100,000 in men; 93,0/100,000 in women). The incidence rate of MS for the period 1992-2000 was 4.0/100,000 per year. CONCLUSION:This study showed a nonsignificant increase in MS incidence rates in Monre…

Foxp3 and gata3 polymorphisms, vitamin d3 and multiple sclerosis

Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D3. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants, Vitamin D3, and MS risk. Methods: We analyzed two polymorphisms in the FOXP3 gene (rs3761547 and rs…

Frequency and determinants for hemorragic transformation of cerebral infarction

Toxic effects on astrocytes of extracellular vesicles from CSF of multiple sclerosis patients: a pilot in vitro study.

Multiple sclerosis (MS) is an autoimmune and degenerative disorder of the central nervous system (CNS) that causes a progressive loss of motor and cognitive perfor-mances. Moreover, since the earlier phases, axonal loss as well as neuronal degener-ation and a failure of oligodendrocytes to promote myelin repair have been demon-strated. In previous studies, it has been shown that the treatment of rat neuronal primary cultures with serum from MS patients can be toxic for neurons. Here we report a pilot investigation showing that CSF from patients contains extracellular vesicles (EVs) able to induce cell death in rat cultured astrocytes. Although these data are still preliminary, they suggest …

A Brief Overview on BDNF-Trk Pathway in the Nervous System: A Potential Biomarker or Possible Target in Treatment of Multiple Sclerosis?

The growing incidence of neurodegenerative disorders in our populations is leading the research to identify potential biomarkers and targets for facilitating their early management and treatments. Biomarkers represent the crucial indicators of both physiological and pathological processes. Specific changes in molecular and cellular mechanisms of physiological processes result in biochemical alterations at systemic level, which can give us comprehensive information regarding the nature of any disease. In addition, any disease biomarker should be specific and reliable, able to consent of distinguishing the physiological condition of a tissue, organ, or system from disease, and be diverse amon…

PINK1 MUTATIONS AND THE RISK OF PARKINSON'S DISEASE IN FAMILY MEMBERS OF SOUTHERN ITALY

Answer to: The possible risk of cancer in multiple sclerosis patients: a controversial issue

Natalizumab Discontinuation and Treatment Strategies in Patients with Multiple Sclerosis (MS): A Retrospective Study from Two Italian MS Centers

Introduction Natalizumab (NTZ) discontinuation can be followed by multiple sclerosis (MS) disease reactivation. Currently no disease-modifying drug (DMD) has been shown to be able to abolish disease reactivation. The aims of the current study were: (1) to determine the frequency of MS reactivation after NTZ discontinuation; (2) to evaluate predictors of reactivation risk, and (3) to compare the effect of different treatments in reducing this risk. Methods Data from 132 patients with MS followed-up for 2 years before NTZ treatment and 1 year after interruption were collected from two Italian MS centers and retrospectively evaluated. Results Overall, 72 of 132 patients (54.5%) had relapses af…

Tumor diagnosis after PD onset: a case-control study

Microchimerism in multiple sclerosis: The association between sex of offspring and MRI features in women with multiple sclerosis

AimsDuring pregnancy, fetal cells can migrate to the mother via blood circulation. A percentage of these cells survive in maternal tissues for decades generating a population of fetal microchimeric cells (fMCs), whose biological role is unclear. The aim of this study was to investigate the association between the sex of offspring, an indirect marker of fMCs, and magnetic resonance imaging (MRI) features in women with multiple sclerosis (MS).MethodsWe recruited 26 nulliparous MS patients (NPp), 20 patients with at least one male son (XYp), and 8 patients with only daughters (XXp). Each patient underwent brain MR scan to acquire 3D-T2w FLAIR FatSat and 3D-T1w FSPGR/TFE. Lesion Segmentation To…

Fumo, caffè e rischio di Sclerosi Multipla: uno studio caso-controllo

A lot of studies support hypothesis that Multiple Sclerosis (MS) rises from interaction between genetic predisposition and environmental factors, not yet identified. As regards environmental factors, we investigated association between disease and exposure to smoking and coffee, wether in incidence or in progression of disease. We led a study by a case-control scheme 1:1, where comparison was between a MS patient and an healthy subject. MS patients (cases) were recognized among people attended in MS Ambulatory at the Neurosciences Department of University Hospital of Palermo. Healthy subjects (controls) were recognized by an epidemiological survey leaded on territory. Cases and controls wer…

Multiple sclerosis survival: a population-based study in Sicily.

Background and purpose: There are few population-based surveys on multiple sclerosis (MS) survival. To investigate MS survival in MS patients recruited during surveys conducted in Sicily. Methods: Multiple sclerosis patients identified during previous surveys were randomly matched to two referent subjects by residence, year of birth, and gender. Living status was obtained by municipality records (end of follow-up June, 30th 2007) and, for the deceased, date and causes of death were searched. Kaplan-Meier plots were used to calculate differences in mortality between MS patients and referent subjects. MS risks for mortality with 95% confidence intervals (CI) were also calculated. Results: We …

FREQUENCY AND DETETRIMINANTS OF HEMORRHAGIC TRASFORMATION OF CEREBRAL INFARCTION

A CASE-CONTROL STUDY ON THE ASSOCIATION BETWEEN DIABETES AND PD

Tumor diagnosis preceding Alzheimer’s disease: a case-control study

Frequency and determinants for hemorrhagic transformation of posterior cerebral stroke : Posterior ischemic stroke and hemorrhagic transformation.

BACKGROUND: hemorrhagic transformation is a threatening ischemic stroke complication. Frequency of hemorrhagic transformation differs greatly among studies, and its risk factors have been usually studied in patients with anterior ischemic stroke who received thrombolytic therapy. We evaluated, in a hospital-based series of patients with posterior ischemic stroke not treated with thrombolysis, frequency and risk factors of hemorrhagic transformation. Patients with posterior circulation stroke were seen in our Department during the period January 2004 to December 2009. Demographic and clinical information were collected. We estimated risk for spontaneous hemorrhagic transformation by means of…

DOES MOTOR CORTEX HIGH FREQUENCY RTMS MODULATE INTRACORTICALINHIBITION IN PATIENTS WITH PARKINSON'S DISEASE ?

Risk of Getting COVID-19 in People With Multiple Sclerosis: A Case-Control Study

Background and ObjectivesSeveral studies have assessed risk factors associated with the severity of COVID-19 outcomes in people with multiple sclerosis (PwMS). The potential role of disease-modifying therapies (DMTs) and demographic and clinical factors on the risk of acquiring SARS-CoV-2 infection has not been evaluated so far. The objective of this study was to assess risk factors of contracting SARS-CoV-2 infection in PwMS by using data collected in the Italian MS Register (IMSR).MethodsA case-control (1:2) study was set up. Cases included PwMS with a confirmed diagnosis of COVID-19, and controls included PwMS without a confirmed diagnosis of COVID-19. Both groups were propensity score–m…

Qual e' la percentuale dei pazienti con Malattia di Parkinson eleggibili per la stimolazione cerebrale profonda del subtalamo? Risultati di un questionario

Risk of Parkinson disease in women: Effect of reproductive characteristics

Objective: To investigate the association between some fertile life characteristics and Parkinson disease (PD) in women. Methods: Women affected by PD and control subjects were matched one to one by age (±2 years). One hundred thirty-one women with idiopathic PD and 131 matched control subjects were interviewed. Controls were randomly selected from the resident list of the same municipality of residence of cases. All subjects had a Mini-Mental State Examination score of ≥24. Cumulative length of pregnancies, age at menarche, age and type of menopause, and estrogen use before and after menopause were investigated in cases and controls through a structured questionnaire. Models of matched pai…

Progressive necrotic encephalopathy following tacrolimus therapy for liver transplantation.

Previously described neurologic damage induced by immunosuppressive treatments includes transient or reversible central nervous system involvement. We describe a 57-year-old man who underwent liver transplantation and was started on immunosuppressive therapy with tacrolimus (FK506). Six months later, he started complaining of a progressive motor and sensory impairment of the left side, together with cognitive impairment. Brain MRI showed an enlarging lesion of the white matter with peripheral contrast enhancement. PET study indicated severe hypometabolism in the right hemisphere and spectroscopic MRI showed a peak of choline and relative reduction of other metabolites. Findings of CSF exami…

Height as a predictor of Parkinson’s disease: a case-control study.

IMMUNOSUPPRESSANT TREATMENT AND CANCER RISK IN A COHORT OF PATIENTS AFFECTED BY MULTIPLE SCLEROSIS

A cross-sectional, multicentre study of the therapeutic management of multiple sclerosis relapses in Italy.

Despite the existence of therapeutic guidelines, management of multiple sclerosis relapse remains heterogeneous. Optimisation of relapse outcome demands an improved understanding of the neurologist's therapeutic attitude towards relapse management, which is the aim of this study. Neurologists from 13 multiple sclerosis centres completed a questionnaire every time they assessed multiple sclerosis relapses. The questionnaire requested a guided description of the relapse's clinical characteristics and an indication of the prescribed therapy, supported with up to 3 out of 20 suggested reasons. Over 3 months, 368 questionnaires were collected. Median percentage (%) of 21 relapses resulting in a …

A multicentRE observational analysiS of PErsistenCe to Treatment in the new multiple sclerosis era: the RESPECT study.

In this independent, multicenter, retrospective study, we investigated the short-term persistence to treatment with first-line self-injectable or oral disease-modifying treatments (DMTs) in patients with relapsing–remitting multiple sclerosis. Data of patients regularly attending 21 Italian MS Centres who started a self-injectable or an oral DMT in 2015 were collected to: (1) estimate the proportion of patients discontinuing the treatment; (3) explore reasons for discontinuation; (3) identify baseline predictors of treatment discontinuation over a follow-up period of 12 months. We analyzed data of 1832 consecutive patients (1289 women, 543 men); 374 (20.4%) of them discontinued the prescrib…

Blood lipids, homocysteine, stress factors, and vitamins in clinically stable multiple sclerosis patients

Abstract Multiple Sclerosis (MS) patients present a decrease of antioxidants and neuroprotective and immunoregulatory vitamins and an increase of total homocysteine (tHcy), cholesterol (CHL), HDL-cholesterol, and of cellular stress markers, variably associated with the different phases of the disease. We compared the blood levels of uric acid, folic acid, vitamins B12, A, and E, tHcy, CHL, HDL-cholesterol, and triglycerides in forty MS patients during a phase of clinical inactivity with those of eighty healthy controls, matched for age and sex. We found higher levels of tHcy (p = 0.032) and of HDL-cholesterol (p = 0.001) and lower levels of vitamin E (p = 0.001) and the ratio vitamin E/CHL …

Long-term survival of Parkinson’s disease: a population-based case-control study.

In a set of a population-based study, long-term survival of 59 prevalent PD patients was compared with that of individuals free of neurological diseases matched 1:2 by sex and age of enrolment. PD individuals, compared with reference subjects, showed a two-fold increased risk of death (OR 2.1; 95 % CI 1.4, 3.1). Among causes of death, pneumonia and cachexia were significantly more frequent among PD patients than among individuals free of neurological diseases. We confirmed in a long-term follow-up study an increased mortality among PD individuals compared with that of the general population.

Idiopathic Parkinson’s Disease and Associated Conditions: Results From a Case-Control Study

LATE MORTALITY OF HEMORRHAGIC TRANSFORMATION OF ISCHEMIC STROKE

Introduction. Hemorrhagic transformation (HT), a complication of ischemic stroke (IS) is supposed to influence patient’s prognosis. Aim of our study was to evaluate, in a hospital-based series of patients not treated with thrombolysis, the relationship between HT and late mortality. Methods. Mortality of individuals with spontaneous HT was compared to that of individuals without. Medical records of patients diagnosed with anterior IS during the period 2004-2006 were reviewed. Living status was obtained from the public record office of the municipality of Palermo or indirectly by telephone interview. Outcome measure was 90 days survival after IS onset. Kaplan-Meier estimates were used to con…

Modulation of action tremor by repetitive transcranial magnetic stimulation in multiple sclerosis patients

Background: Patients affected by Multiple Sclerosis (MS) can show a tremor of their upper limbs, mostly during the performing of finalised action (action tremor) or at the maintaining of a position against gravity (postural tremor), as key clinical feature of their disease. Objectives: In order to reduce the tremor, patients underwent to repetitive transcranial magnetic stimulation (rTMS) of the primary motor cortex of left hemisphere. Methods: Eight patients affected by a middle form of MS were enrolled into the study. A standard neurological examination was carried out and the individual degree of disability was established employing the Expanded Disability Status Score (EDSS). At EDSS pa…

Accuracy of death certificates for motor neuron disease and multiple sclerosis in the province of Palermo in southern Italy

Mortality studies based on death certificates (DCs) are relatively inexpensive and easy to conduct. Therefore, they are frequently used to evaluate variations of geographical and temporal patterns, particularly in uncommon diseases. Recent surveys of motor neuron disease (MND) and multiple sclerosis (MS) based on official mortality statistics in Italy showed a decreasing trend of mortality from northern to southern Italy. To evaluate if DCs are homogeneously recorded in Italy and whether or not they can be considered a good instrument for mortality studies, we assessed the accuracy of DCs for MND and MS in the province of Palermo, Italy, and compared our results with those reported in other…

Determinants of depressive symptoms among spouse caregivers of patients with Parkinson’s disease

CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study.

Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Hypovitaminosis D seems to contribute to MS susceptibility as both an environmental and a genetic risk factor. The aim of our study was to investigate the association of SNPs in CYP27A1, CYP24A1, and RXR- α genes, vitamin D status, and MS risk. We performed a nested case-control study on patients with multiple sclerosis and healthy controls. Serum 25(OH)D3 levels and genotyping of CYP27A1, CYP24A1, and RXR-α -SNPs were investigated both in MS patients and in healthy controls. Serum 25(OH)D3 levels were measured by a high-performance liquid chromatograp…

A new role of CYP2R1 in Multiple Sclerosis

Food of the Gods for the Treatment of Multiple Sclerosis Related Fatigue?

In their JNNP paper, Coe et al report the preliminary results of a feasibility trial on flavonoid enriched cocoa for the treatment of multiple sclerosis (MS) related fatigue, showing promising results that encourage the conduction of a phase III clinical trial to confirm the results of possible clinical effects on MS related fatigue.1 As described in the paper,1 fatigue is the most common symptom reported by individuals affected by MS, affecting the majority of patients. It is often present even when neurological disability is low and in the early stages of the disease, but impacts significantly the quality of life in MS patients, diminishing independence in everyday activities. Fatigue sym…

MRI abnormalities following repeated and incoming seizures.

Abstract Neuroimaging, an important diagnostic tool frequently used in the evaluation of patients with epilepsy, has mainly the aim to identify structural abnormalities needing a treatment and to contribute to the definition of the aetiology. Brain magnetic resonance imaging (MRI) in epilepsy is more sensitive than computerized tomography (CT) scan for detecting abnormalities. Status epilepticus (SE) and repeated incoming seizures may determine extensive and transient or long lasting pronounced MRI changes. We describe a case of a 41-year-old woman with a history of brain neoplasm, whose contrast-enhanced MRI images following repeated and incoming seizures were characterized either by rever…

Tumor diagnosis preceding Parkinson's disease: A case-control study

Lower cancer risk in Parkinson’s disease (PD) patients compared to the general population has been reported. However, most of the studies were based on death certificates. We designed a case– control study to estimate the association of tumor preceding PD onset and PD. PD patients were matched by age and gender to PD-free individuals, randomly selected from the municipalities of residence of cases. Occurrence of tumors preceding PD onset was assessed through a structured questionnaire. Neoplasms were categorized as benign, malignant, or of uncertain classification, and endocrine-related or not. Odds ratios (OR) were calculated using conditional logistic regression and adjusted for tumor cat…

Metanalisi degli studi su fattori di rischio ambientali nella sclerosi multipla

Cigarette Smoking, coffee consumption and multiple sclerosis: a case-control study

Defining the course of tumefactive multiple sclerosis: A large retrospective multicentre study

Background and purpose: Tumefactive multiple sclerosis (TuMS) (i.e., MS onset presenting with tumefactive demyelinating lesions [TDLs]) is a diagnostic and therapeutic challenge. We performed a multicentre retrospective study to describe the clinical characteristics and the prognostic factors of TuMS. Methods: One hundred two TuMS patients were included in this retrospective study. Demographic, clinical, magnetic resonance imaging (MRI), laboratory data and treatment choices were collected. Results: TuMS was found to affect women more than men (female:male: 2.4), with a young adulthood onset (median age: 29.5 years, range: 11–68 years, interquartile range [IQR]: 38 years). At onset, 52% of …

How many parkinsonian patients are suitable candidates for deep brain stimulation of subthalamic nucleus? Results of a questionnaire.

We used a CAPSIT-based questionnaire to estimate the percentage of parkinsonian patients suitable for subthalamic nucleus (STN) deep brain stimulation (DBS) in a movement disorders clinic. We found that out of 641 consecutive PD patients only 1.6% fulfilled strict STN-DBS criteria. When we applied more flexible criteria, the percentage of eligibility increased to 4.5%. Most patients (60%) were ineligible because they did not satisfy multiple questionnaire items. Items related to disease severity were responsible for the largest number of exclusions. This knowledge will help make decisions on resource allocation in centres wishing to start DBS surgery.

Dropped head as an unusual presenting sign of myastenia gravis

Serum acid homocysteine, oxidative stress markers and vitamins in multiple sclerosis

Cholesterol level and hemorrhagic trasformation after ischemic stroke

Clinical Features and disease outcome in pt with pediatric and young adult onset multiple sclerosis

Stroke incidence and case fatality: a 9-year prospective population-based study in an elderly population of Bagheria, Italy

Abstract Background The incidence of stroke in high-income countries has been on the decline; however, few epidemiological surveys have been conducted in recent years to specifically estimate the incidence along with outcome of stroke, in Italy. This study aimed to examine the incidence and case fatality rates of stroke in an elderly Italian population. Methods A cohort of 2200 people > 65 years was randomly stratified from the total elderly population of Bagheria, Italy. A 9-year prospective population-based study was performed (19,800 person/years). Results We identified 112 first-ever strokes, 53 females and 59 males: 82 (73.1%) ischemic, 13(11.6%) intracerebral haemorrhages, 6 (5.35%…

Environmental risk factors for Parkinson's Disease

The Role of Nutritional Lifestyle and Physical Activity in Multiple Sclerosis Pathogenesis and Management: A Narrative Review

Studies on the role of nutritional factors and physical activity (PA) in the pathogenesis of multiple sclerosis (MS) go back a long time. Despite the intrinsic difficulty of studying their positive or negative role in MS, the interest of researchers on these topics increased during the last few decades, since the role of diet has been investigated with the perspective of the association with disease-modifying drugs (DMD). The association of DMD, diets, and PA might have an additive effect in modifying disease severity. Among the various diets investigated (low-carbohydrate, gluten-free, Mediterranean, low-fat, fasting-mimicking, and Western diets) only low-carbohydrate, Mediterranean, and f…

Height as an indicator of eraly life events predicting Parkinson's disease: A case-control study

Familiarity for epilepsy among multiple sclerosis patients with seizures: a pilot case-control study.

Association between multiple sclerosis, cancer risk, and immunosuppressant treatment: a cohort study

Abstract Background The association between multiple sclerosis (MS) and cancer has long been investigated with conflicting results. Several reports suggest an increased cancer risk among MS patients treated with immunosuppressant (IS) drugs. Methods We performed a cohort study including MS patients recruited at the Neurological Department of the University of Palermo. Mean follow-up period was ten years for the whole cohort. We calculated cancer incidence among patients treated with IS. Incidence rates were compared in the cohort by calculating the relative risk according to length and dose of exposure to IS. Cancer incidence among MS patients was compared to cancer incidence in the general…

Clinical Onset and Multiple Sclerosis Relapse after SARS-CoV-2 Infection

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been associated with several neurological disorders including headache, facial palsy, encephalitis, stroke, demyelinating disorders. The present report will discuss cases of multiple sclerosis (MS) onset and relapse both beginning early after SARS-CoV-2 infection. In both cases, magnetic resonance imaging (MRI) showed widespread bilateral subcortical and periventricular active lesions. Serum IgG against SARS-CoV-2 Spike antigens confirmed seroconversion with titers that are considered not definitely protective against possible reinfection. We hypothesize that SARS-CoV-2 infection, as previously reported for other vir…

Bilateral ptosis and internuclear ophthalmoplegia in a case of bilateral thalamic and midbrain Infarct.

Moral Cognition and Multiple Sclerosis: A Neuropsychological Study

Objectives Recent literature proved that social cognition impairments may characterize the neuropsychological profile of Multiple Sclerosis (MS) patients. However, little is still known about moral cognition in MS. In this study, we evaluated non-social, social, and moral cognitive performances in 45 relapsing-remitting MS patients. Methods Patients underwent the Brief International Cognitive Assessment for Multiple Sclerosis battery, the Cognitive Estimation and Stroop tasks, the Ekman-60 Faces test, the Reading the Mind in the Eye and Story-based Empathy task. Additionally, a task of moral dilemmas including both "instrumental" and "incidental" conditions was administered to patients. For…

Prevalence and risk factors of post-polio syndrome in a cohort of polio survivors.

Abstract Objective To investigate frequency and associated factors of post polio syndrome (PPS) in an Italian cohort of people with prior poliomyelitis. Methods We screened subjects admitted for poliomyelitis at the paediatric hospital of the University of Palermo during the time frame 1945–1960. Patients who developed PPS were identified through a structured questionnaire and a neurologic examination. PPS diagnosis was made according to specified diagnostic criteria. Frequency of PPS was calculated in the selected cohort of polio survivors. The association with the investigated risk factors (sex, age at onset of polio, extension and severity of polio, education, associated diseases, cigare…

A population-based survey on cognitive performance in Sicily. Cognitive impairment is modified by fertile life characteristics.

Incidence and prevalence of amyotrophic lateral sclerosis in Sicily: a population based study

Mortality in multiple sclerosis: a review

This work was undertaken to evaluate studies on mortality caused by multiple sclerosis (MS), to evaluate if useful inferences can be drawn from survival studies that can be applied to clinical practice. A literature search was carried out to find epidemiological studies on MS prognosis, survival, mortality and causes of death relevant to our aim. The World Health Organization (WHO) reports on worldwide cause-specific mortality were also considered. Studies were evaluated according to the duration of the follow-up study, the year of publication and the methodology used. We evaluated MS survival from a methodological point of view and considered if time trends could be drawn from study result…

Informing MS patients on treatment options: a consensus on the process of consent taking

Abstract\ud In the last years, change in multiple sclerosis (MS) therapeutic scenario has highlighted the need for an improved doctor-patient communication in advance of treatment initiation in order to allow patient’s empowerment in the decision-making process.\ud Aims\ud The aims of our project were to review the strategies used by Italian MS specialists to inform patients about treatment options and to design a multicentre shared document that homogenizes the information about disease-modifying treatment (DMTs) and the procedure of taking informed consent in clinical practice.\ud Results\ud The new resource, obtained by consensus among 31 neurologists from 27 MS Centres in Italy with the…

Clinical and instrumental predictors of efficacy of natalizumab therapy in the course of multiple sclerosis: a retrospective study from a single centre

Frequency and determinants for hemorrhagic trasformation of cerebral infarction

Mortality studies for multiple sclerosis: still a useful tool to analyse long-term outcome

Mortality studies represent a useful way to look at the prognosis of a chronic complex disease and to evaluate the impact of therapeutic and caring strategies on long-term outcomes. Results should be interpreted keeping always in mind the following important aspects: first, to what extent the disease affects patient’s life in terms of life expectancy. Second, what is at this moment the real impact that the strategies and measures we adopt to cure and to take care of patients really have on clear and strong endpoints like mortality? In their JNNP manuscript, Lunde et al .1 show a significant reduction in life expectancy in people affected by multiple sclerosis (MS) over a study period of abo…

An unexpected association between intracranial hypotension and split cord malformation

BODY MASS INDEX AND PARKINSON'S DISEASE: A CASE-CONTROL STUDY

AN UNUSUAL ASSOCIATION OF MYASTHENIA GRAVIS (MG) AND PANCREATIC NEUROENDOCRINE TUMOR (PNET): A CASE REPORT

PROGRESSIVE MULTIFOCAL LEUCOENCEPHALOPATHY DURING TACROLIMUS THERAPY FOR LIVER TRANSPLANTATION

Four cases of progressive multifocal leukoencephalopathy in iatrogenic immunocompromised patients

Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system (CNS) caused by John Cunningham Virus (JCV). We report four PML cases in immunocompromised patients, respectively treated with (1) Natalizumab, (2) Rituximab, (3) autologous stem-cell transplantation, and (4) Tacrolimus. All patients underwent neurological examination, magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), JCV-DNA research on biological samples, and lymphocytes subpopulation study. All cases presented with motor, behavioural, and cognitive disorders. Visual, sensitive, and cerebellar deficits developed in three cases. MRI revealed widespread progressiv…

Neuronal and BBB damage induced by sera from patients with secondary progressive multiple sclerosis.

An important component of the pathogenic process of multiple sclerosis (MS) is the blood-brain barrier (BBB) damage. We recently set an in vitro model of BBB, based on a three-cell-type co-culture system, in which rat neurons and astrocytes synergistically induce brain capillary endothelial cells to form a monolayer with permeability properties resembling those of the physiological BBB. Herein we report that the serum from patients with secondary progressive multiple sclerosis (SPMS) has a damaging effect on isolated neurons. This finding suggests that neuronal damaging in MS could be a primary event and not only secondary to myelin damage, as generally assumed. SPMS serum affects the perme…

Depression and associated factors among spouse-caregivers of patients with Parkinson’s disease.

Frequency of Mitoxantrone related heart involvement in patients affected by Multiple Sclerosis

Multiple reversibile MR signals in course of Epstein-Barr virus encephalitis

Multiple ring-enhancing brain lesions in a ghanaian patient: a case report

Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease

Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1-associated phenotype. Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which r…

Diabetes preceding Parkinson's disease onset. A case–control study

Abstract Objective To assess the association between diabetes preceding Parkinson's disease (PD) and PD. Methods PD individuals were matched to PD free individuals randomly selected from people in the same municipality as the cases. Occurrence of diabetes preceding PD onset among cases and controls was assessed through a structured questionnaire. Information regarding current and past medical treatment and other variables was also collected. We used univariate and multivariate logistic models to calculate crude and adjusted odds ratios (OR). Covariates are adjusted for included education, smoking habit, alcohol and coffee consumption. Results 318 PD individuals (165 women, 153 men) and 318 …

Hypoxanthine, xanthine, and uric acid in plasma from patients with multiple sclerosis and psoriasis.

Vitamin D receptor polymorphisms and 25-hydroxyvitamin D in a group of Sicilian multiple sclerosis patients

Multiple sclerosis (MS) is an auto-immune disease whose etiology remains controversial. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of our study was to assess the association of Vitamin D receptor (VDR) polymorphisms with MS and to investigate the interaction of these polymorphisms with vitamin D levels. A total of 179 Sicilian subjects, including 104 MS patients and 75 healthy controls, were studied. The most common VDR polymorphisms (Fok-I, Bsm-I, Taq-I and Apa-I) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25-hydroxyv…

Tumor Diagnosis Preceding Alzheimer's Disease Onset: Is There a Link Between Cancer and Alzheimer's Disease?

Studies reporting an inverse association between Alzheimer's disease (AD) and cancer are scant. Available data are mostly based on ancillary findings of mortality data or obtained from studies evaluating frequency of neoplasms in AD patients independently if they occurred before or after AD. Moreover, some studies estimated frequencies of neoplasms in demented individuals, who were not necessarily AD patients. We estimated frequency of tumors preceding the onset of AD in AD patients and compared it to that of age- and gender-matched AD-free individuals. Occurrence of tumors preceding AD onset was assessed through a semi-structured questionnaire. Tumors were categorized as benign, malignant,…

A rapid and simple multiparameter assay to quantify spike-specific CD4 and CD8 T cells after SARS-CoV-2 vaccination: A preliminary report

mRNA and Adenovirus vaccines for COVID-19 are used to induce humoral and cell-mediated immunity, with the aim to generate both SARS-CoV-2 B and T memory cells. In present study, we described a simple assay to detect and quantify Spike-specific CD4+ and CD8+ T cell responses induced by vaccination in healthy donors and in subjects with B cell compart impairment, in which antibody response is absent due to primary immunodeficiencies or CD20 depleting therapy. We detect and quantified memory T cell immune responses against SARS-CoV-2 evocated by vaccination in both groups, irrespective to the humoral response. Furthermore, we identified TNF-α as the main cytokine produced by T memory cells, af…

Reversible posterior leukoencephalopathy syndrome in a patient with thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is an autoimmune disorder characterised by fever, microangiopathic haemolytic anaemia, renal insufficiency, and thrombocytopenia. Neurological involvement, a prominent component of TTP, is characterised by a variety of brain lesions which include reversible cerebral oedema or magnetic resonance imaging (MRI) features of reversible posterior leukoencephalopathy syndrome (RPLS). TTP is frequently associated with deficiency of the von Willebrand factor-cleaving protease, ADAMTS13.Here, we report a case of TTP with severe acute encephalopathy. Posterior leukoencephalopathy and brainstem oedema with triventricular hydrocephalus were observed on MRI. The …

TREATMENT CHOICE AFTER 24 NATALIZUMAB DOSES IN PATIENTS WITH MULTIPLE SCLEROSIS: A PROSPECTIVE OBSERVATIONAL STUDY, THE TY-STOP

Age at menopause predicts age at onset of Parkinson's disease.

We investigated the association between age at onset of Parkinson's disease (PD) and fertile life characteristics in 145 women. Linear regression analyses showed a significant correlation between age at PD onset and age at menopause (P = 0.003), between age at PD onset and fertile life duration (P = 0.008), and a nonsignificant correlation between PD onset and cumulative duration of pregnancies (P = 0.23). These results support the possible role of estrogens in PD.

Multiple sclerosis survival: a population-based study in Sicily

Background and purpose:  There are few population-based surveys on multiple sclerosis (MS) survival. To investigate MS survival in MS patients recruited during surveys conducted in Sicily. Methods:  Multiple sclerosis patients identified during previous surveys were randomly matched to two referent subjects by residence, year of birth, and gender. Living status was obtained by municipality records (end of follow-up June, 30th 2007) and, for the deceased, date and causes of death were searched. Kaplan-Meier plots were used to calculate differences in mortality between MS patients and referent subjects. MS risks for mortality with 95% confidence intervals (CI) were also calculated. Results:  …

Lactate Threshold Training Program on Patients with Multiple Sclerosis: A Multidisciplinary Approach

Physical activity could play a key role in improving the quality of life, particularly in patients with nervous system diseases such as multiple sclerosis (MS). Through lactacid anaerobic training, this study aims to investigate the effects at a bio-psycho-physical level to counteract the chronic fatigue associated with the pathology, and to improve mental health at a psychological and neurotrophic level. Eight subjects (age: 34.88 ± 4.45 years) affected by multiple sclerosis were involved. A lactate threshold training program was administered biweekly for 12 weeks at the beginning of the study (T0), at the end of the study (T1) and at 9 months after the end of the study (T2), with physical…

Studio delle frequenze alleliche del polimorfismo +1902A/G del gene IL4R in soggetti affetti da sclerosi multipla .

Differences in intercellular communication during clinical relapse and gadolinium-enhanced MRI in patients with relapsing remitting multiple sclerosis: A study of the composition of extracellular vesicles in cerebrospinal fluid

This study was designed based on the hypothesis that changes in both the levels and surface marker expression of extracellular vesicles (EVs) isolated from the cerebrospinal fluid (CSF) may be associated with the clinical form, disease activity, and severity of multiple sclerosis (MS). The analyzes were performed on subjects affected by MS or other neurological disorders. EVs, which were isolated by ultracentrifugation of CSF samples, were characterized by flow cytometry. A panel of fluorescent antibodies was used to identify the EV origin: CD4, CCR3, CCR5, CD19, and CD200, as well as isolectin IB4. The Mann–Whitney U-test and Kruskal–Wallis test were used for statistical analyzes. EVs isol…

Anodal tDCS of the swallowing motor cortex for treatment of dysphagia in multiple sclerosis: a pilot open-label study

Swallowing difficulties are a common symptom of multiple sclerosis (MS). The early detection and treatment of dysphagia is critical to prevent complications, including poor nutrition, dehydration, and lung infections. Recently, transcranial direct current stimulation (tDCS) has been proven to be effective in ameliorating swallowing problems in stroke patients. In this pilot study, we aimed to assess safety and efficacy of transcranial direct current stimulation (tDCS) in the treatment of dysphagia in MS patients. We screened 30 patients by using the 10-item DYsphagia in MUltiple Sclerosis (DYMUS) questionnaire, and patients at risk for dysphagia underwent a clinical and fiberoptic endoscopi…

Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families.

Return of disease activity after natalizumab therapy discontinuation in patients with multiple sclerosis: frequency and clinical and instrumental predictors of reactivation

Transcranial magnetic resonance-guided focused ultrasound thalamotomy as a safe treatment option in multiple sclerosis patients with essential tremor

Transcranial magnetic resonance-guided focused ultrasound is a recently introduced incisionless treating option for essential tremor and tremor-dominant idiopathic Parkinson disease. There is preliminary evidence that it may result in a promising effective treatment option for other movement disorders too. Here, we report on two patients with multiple sclerosis with medication refractory debilitating essential tremor comorbidity who successfully underwent unilateral Vim tcMRgFUS thalamotomy for tremor control. Patients' clinical condition and expanded disability status scale scores showed no changes during the 1-year follow-up period with no evidence of multiple sclerosis activity or progre…

DENTATO-RUBRAL PALLIDOLUYSIAN ATROPHY: CLINICAL AND GENETIC ANALYSIS OF A SICILIAN PEDIGREE

Exposure to natalizumab throughout pregnancy: effectiveness and safety in an Italian cohort of women with multiple sclerosis.

ObjectiveAssessing the risk of clinical and radiological reactivation during pregnancy and post partum in women with multiple sclerosis (MS) treated with natalizumab (NTZ) throughout pregnancy (LONG_EXP) compared with women interrupting treatment before (NO_EXP) and within >−30 days and ≤90 days from conception (SHORT_EXP), and describing newborns’ outcomes.MethodsMaternal clinical and radiological outcomes and obstetric and fetal outcomes were retrospectively collected and compared among groups (NO_EXP, SHORT_EXP, LONG_EXP). Predictors of clinical and radiological reactivation were investigated through univariable and multivariable analysis.Results170 eligible pregnancies from 163 women…

DYSAUTONOMIC DYSFUNCTION IN PARKINSON’DISEASE BY SCOPA-AUT SCALE

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Cardiovascular comorbidity in multiple sclerosis patients treated with mitoxantrone therapy: a cohort study

Abstract Background Mitoxantrone (MX) has been used as second line therapy for aggressive multiple sclerosis (MS). Potential cardiotoxic effects of MX limit its use; a cumulative dose of up to 100 mg/m2, has been long considered relatively safe. We calculated the frequency of cardiac side effects in MS patients treated with MX. Methods We performed a cohort study including all MS patients treated with MX at the Neurological Department of the University Hospital of Palermo, Italy. Two hundred-sixty-four MS patients diagnosed according to validated criteria were included and followed-up until the end of September 2010. Patients were treated with MX as a second line therapy if they had no prev…

Association of CYP2R1 rs10766197 with MS risk and disease progression

Background MS is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D-metabolism gain great attention. The aim of our study was to assess five SNPs in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS patients and controls. Methods 25-OH-vitamin D3 levels and genotyping of CYP2R1- and NADSYN1-SNPs were investigated both in MS patients and in healthy controls. Results The analysis revealed lower 25-OH-vitamin D3 concentrations in MS patients than in controls and an association of rs10766197 CYP2R1 SNP with MS risk. After stratifying MS p…

Idiopathic Parkinson's disease and diabetes: results from a case-control study.

Acute onset parkinsonism during leukoencephalopathy and CMV infection

Identification of Biomarkers in Cerebrospinal Fluid and Serum of Multiple Sclerosis Patients by Immunoproteomics Approach

Multiple sclerosis (MS) is an autoimmune inflammatory demyelinating disease of the central nervous system. At present, the molecular mechanisms causing the initiation, development and progression of MS are poorly understood, and no reliable proteinaceous disease markers are available. In this study, we used an immunoproteomics approach to identify autoreactive antibodies in the cerebrospinal fluid of MS patients to use as candidate markers with potential diagnostic value. We identified an autoreactive anti-transferrin antibody that may have a potential link with the development and progression of MS. We found this antibody at high levels also in the serum of MS patients and created an immun…

Extracellular vesicles isolated by cerebrospinal fluid as biomarkers of inflammation in multiple sclerosis and inflammatory neurological diseases.

BODY MASS INDEX DOES NOT CHANGE BEFORE PARKINSON'S DISEASE ONSET.

Background and purpose:  Previous studies on the association between Parkinson’s disease (PD) and body mass index (BMI) have reported conflicting results. We investigated the relationship between PD and BMI by a case–control study. Methods:  PD patients were randomly matched to healthy individuals by sex and age. BMI distribution in cases has been compared with BMI of controls and odd ratios (ORs) with 95% CI were calculated. Results:  We included 318 PD patients and 318 controls. We observed no association between PD and BMI. BMI distribution in cases and controls was similar also when we adjusted for diabetes, hypercholesterolemia and the time elapsed between PD onset and the interview (O…

Prevalence and incidence of multiple sclerosis in the city of Monreale, Italy

The prevalence and incidence of multiple sclerosis (MS) in the city of Monreale, southern Italy were ascertained 10 years after a preliminary study in the same area. The study was undertaken in a population of 26,256 people. The patients were classified according to Poser’s criteria. The prevalence of MS on 31 December 1991 was 72.4 per 100,000 population. The incidence of MS for the period 1981–1991 was 3.3/100,000 per year. The mean period between onset and diagnosis of MS was 4.9 years for those patients found during this survey and 9.2 years for those in the first study. This study shows an increase of MS prevalence in Monreale city and a high incidence. The findings parallel the reduct…

FURTHER EVIDENCE OF GENETIC HETEROGENEITY IN FAMILIAL ESSENTIAL TREMOR.

PARKINSON’S DISEASE AND PARKINSON’S DISEASE FAMILIAL HISTORY. RESULTS OF A CASE-CONTROL STUDY

PINK mutation and the risk of parkinson's disease in family members of southern Italy

Parkinson's disease and cancer: insights for pathogenesis from epidemiology .

Epidemiological evidence suggests a reduced incidence of many common types of cancers in individuals with Parkinson's disease (PD). Parkinson's disease and cancer are two diseases that result from an excessive signaling by one of two forces driving cells to opposite directions. PD results from the excessive death of dopaminergic neurons in the substantia nigra pars compacta (SNc) in the brain, while uncontrolled growth is the key property of cancer. Parkinson's disease is a complex disorder, probably due in most of the cases to the interaction of environment and genes. Many genes responsible for familial forms of PD are supposed to have a supportive role in regulating or maintaining the cel…

Height as a potential indicator of early life events predicting Parkinson's disease: A case-control study

Aim of this study was to investigate the relationship between height in young adult age and Parkinson's disease (PD) risk. We included 266 persons affected by idiopathic PD. Patients were matched by age and sex to 266 controls by a random selection from the municipality of residence. We collected information about height preceding PD from official documents where these characteristics referred to young adult age (nearly 30 years). We compared height in cases and controls by calculating differences in mean distribution and by χ2 analyses. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were calculated by logistic regression models. Mean height was significantly lower in…

Reversible posterior leukoencephalopathy syndrome in a patient with thrombotic thrombocytopenic purpura

Predictors of caregiver burden in partners of patients with Parkinson's disease

Prevalence of cervical spondylotic radiculopathy: A door-to-door survey in a Sicilian municipality

Introduction - Because of the limited information on cervical spondylotic radiculopathy, we conducted a door-to-door two-phase survey in a Sicilian municipality. Material and methods - We first screened for cervical spondylotic radiculopathy among the inhabitants of the municipality : (N= 7653, as of the prevalence day, November 1, 1987). Study neurologists then investigated those subjects suspected to have had a cervical spondylotic radiculopathy. Diagnoses were based on specified criteria. Results - We found 27 subjects affected by CSR (17 definite, 10 possible). Prevalence (cases per 1000 population) was 3.5 in the total population ; it increased to a peak at age 50-59 years and decrease…

Thyroid autoimmunity and dysfunction in multiple sclerosis patients during long-term treatment with interferon beta or glatiramer acetate: an Italian multicenter study.

Few long-term follow-up data are available on thyroid dysfunction (TD) in multiple sclerosis (MS) patients treated with glatiramer acetate (GA) or with interferon-beta (IFNb). In a cohort of 787 relapsing-remitting MS (RRMS) patients whom were followed up for 8 years, we observed an increased prevalence of TD and thyroid autoimmunity (TA) within the first year of IFNb treatment, regardless of the dose or frequency of administration, while no change was observed with GA treatment. The increased prevalence of TD and TA within the first year of IFNb treatment suggested the need for close monitoring of thyroid function and autoimmunity, though only during the first year of IFNb treatment. © Th…

A Door-to-Door population based survey on cognitive performance In Bagheria, Sicily.

Frequency and Determinants for Hemorrhagic Transformation of Cerebral Infarction

Frequency of cognitive impairment and factors associated in outpatients with Parkinson’s disease

Implications for Estrogens in Parkinson's Disease: An Epidemiological Approach

Abstract: Evidence from experimental and epidemiological studies suggests a role of sex hormones in the pathogenic process leading to neurodegenerative diseases, (i.e., Alzheimer's and Parkinson's disease). The effects of sexual steroid hormones are complex and vary with the events of women's fertile life. Estrogens are supposed to influence dopamine synthesis, metabolism, and transport; however, there is no consensus regarding the direction, locus, and mechanism of the effect of estrogens on the dopaminergic system. A neuroprotective effect of estrogens has been demonstrated in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-animal models of Parkinson's disease (PD). Epidemiological st…

Implications for Estrogens in Parkinson’s Disease

Evidence from experimental and epidemiological studies suggests a role of sex hormones in the pathogenic process leading to neurodegenerative diseases, (i.e., Alzheimer's and Parkinson's disease). The effects of sexual steroid hormones are complex and vary with the events of women's fertile life. Estrogens are supposed to influence dopamine synthesis, metabolism, and transport; however, there is no consensus regarding the direction, locus, and mechanism of the effect of estrogens on the dopaminergic system. A neuroprotective effect of estrogens has been demonstrated in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-animal models of Parkinson's disease (PD). Epidemiological studies indi…

Is season of birth associated with multiple sclerosis?

Objective - To compare the monthly distribution of multiple sclerosis (MS) patients' births with that of the Sicilian population. Background -Studies on the association between season of birth and risk of MS are scanty and controversial. Design and methods - Archives of the Institute of Neuropsychiatry of the Universities of Palermo and Catania were searched up to 1995 for definite MS patients (McDonald & Halliday criteria). The monthly distribution of MS patients' births (N=965) was compared with that of the Sicilian population (N = 5,608,307). Results -The distribution of births among MS patients compared with the general population was not different when tested by the X 2 statistic (P > …

Effects of transcranial random noise stimulation combined with Graded Repetitive Arm Supplementary Program (GRASP) on motor rehabilitation of the upper limb in sub-acute ischemic stroke patients: a randomized pilot study.

We evaluated the combined use of transcranial random noise stimulation (tRNS) with the Graded Repetitive Arm Supplementary Program (GRASP) in sub-acute ischemic stroke patients suffering from arm impairment. Eighteen ischemic stroke patients with upper limb disability were randomly assigned to either the GRASP + tRNS or GRASP + Sham stimulation group. Fugl-Meyer Assessment-Upper extremity (FMA-UE) was performed to evaluate upper limb impairment before treatment (T0), after the last stimulation (T1) and after 30 days (T2). At T1 and T2, beneficial effects in the tRNS group correlated with better FMA-UE score than sham stimulation group (p < 0.001) and these results did not correlate to st…

The efficacy of anaerobic training on multiple sclerosis symptoms management

Purpose: the aim of this study was to investigated the improvement of physical health status and reduce the chronic fatigue associated with that pathology in people with multiple sclerosis following lactacid anaerobic training protocol. Methods: 8 subjects (age: 34,88 ± 4,45) affected by multiple sclerosis (EDSS < 3.5) were involved in our study. An anaerobic lactacid training was administered for 12 weeks, 2 times a week, an hour and a half for each session. At the beginning (T0), at the end of the study (T1) and after 9 months from the end of the study (Follow-up, FU) physical parameters (body compositions analysis; strength, balance and reaction tests; Visual Analog Fatigue Scale, VAF…

Motor intracortical inhibition in PD: L-DOPA modulation of high-frequency rTMS effects

Dopaminergic drugs and deep brain stimulation restore cortical inhibition in Parkinson disease (PD) patients. High-frequency rTMS was also found to increase cortical inhibition in PD but its therapeutic effect is still controversial. Here we hypothesize that, if dopaminergic drugs reverse to normal cortical excitability in M1, the effect of high-frequency (hf)-rTMS in PD patients could depend on whether they are in a medicated or unmedicated state. The present study aims to explore the lasting effects of sub-threshold hf rTMS trains over M1 on cortical inhibition in patients with "on" and without "off" L-DOPA treatment. Fourteen PD patients were examined twice while "on" and "off" medicatio…

LEPROSY: A CASE REPORT FROM SICILY, ITALY

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RISK FACTORS FOR DYSKINESIAS IN PATIENTS WITH PARKINSON'S DISEASE

remarkably increasing incidence of multiple sclerosis. A follow-up study in Caltanissetta, Sicily

Intravenous gammaglobulin treatment in chronic progressive multiple sclerosis

Clinical effectiveness of different natalizumab interval dosing schedules in a large Italian population of patients with multiple sclerosis

IntroductionNatalizumab (NTZ) is one of the most effective treatment options for multiple sclerosis (MS) treatment. Our study aimed to evaluate the effectiveness of NTZ when administered according to the extended dosing strategy compared with standard 4-weekly administration in a large Italian MS population.Materials and methodsThis retrospective multicentre study included patients with relapsing-remitting MS (RR-MS) who received NTZ administrations between the 1 June 2012 and the 15 May 2018 and were followed by the ‘Italian MS Register’. All patients with MS were stratified into two groups based on NTZ administration schedule: standard interval dosing (SID) patients who received infusions…

Clinical and Instrumental Findings and Disability Progression in Primary Progressive and Progressive Relapsing Multiple Sclerosis: A Comparison Study of a Sicilian Group of Patients

Comparable efficacy and safety of dimethyl fumarate and teriflunomide treatment in Relapsing-Remitting Multiple Sclerosis: an Italian real-word multicenter experience

BACKGROUND: The aim of the study was to evaluate the achievement of 'no evidence of disease activity' (NEDA) over a 12-month period in a large multicenter population with relapsing remitting multiple sclerosis (RRMS) treated with delayed-release dimethyl fumarate (DMF) and teriflunomide (TRF) using a propensity-score adjustment. METHODS: A time-to-event method was used to determine the percentages of patients with RRMS (pwRRMS) in both groups achieving NEDA 3 (no relapses, no 12-week confirmed disability progression, and no new T2/gadolinium-enhancing brain lesions). We described the safety profile of the investigated drugs. RESULTS: Of the 587 pwRRMS treated with DMF and the 316 pwRRMS tre…

Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation

We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C > T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced pe…

Taopatch® combined with home-based training protocol to prevent sedentary lifestyle and biochemical changes in MS patients during COVID-19 pandemic

In Multiple sclerosis (MS) it is important to preserve the residual physiological functions of subjects. The aim of the present study was to investigate the influence of nanotechnological device treatment combined with home-based training program (TP) on lactate level, hand grip strength and cervical mobility on MS patients. Seventeen MS patients were enrolled in the study and randomly assigned to an experimental group (EG) in which the Taopatch® nanotechnological device was applied or to a control group (CG). All the participants carried out a cervical range of motion (1) assessment and the hand grip test at baseline (T0) and after TP (T1), also investigating the lactate levels to figure o…

Prevalence of comorbidity in Parkinson’s disease: a case-control study

Purine metabolism and multiple sclerosis: pattern varies according to disease stage and clinical form

Clinical and instrumental predictors of efficacy of Natalizumab therapy in multiple sclerosis patients: a retrospective study from a single centre

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

HLA and killer cell immunoglobulin-like receptor (KIRs) genotyping in patients with acute viral encephalitis

// Antonino Tuttolomondo 1 , Claudia Colomba 2 , Danilo Di Bona 6 , Alessandra Casuccio 4 , Domenico Di Raimondo 1 , Giuseppe Clemente 1 , Valentina Arnao 5 , Rosaria Pecoraro 1 , Paolo Ragonese 5 , Anna Aiello 3 , Giulia Accardi 3 , Rosario Maugeri 5 , Carlo Maida 1 , Irene Simonetta 1 , Vittoriano Della Corte 1 , Domenico Gerardo Iacopino 5 , Calogero Caruso 3 , Antonio Cascio 2 and Antonio Pinto 1 on behalf of KIRIIND (KIR Infectious and Inflammatory Diseases) Collaborative Group 1 U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), Universita degli Studi di Palermo, Palermo, Italy 2 U.O.C di Malattie Infettive, Dipartiment…

Frequency and determinants for hemorrhagic transformation of cerebral infarction.

<i>Background:</i> Frequency and associated risk factors for hemorrhagic transformation (HT), a worrying complication of ischemic stroke (IS), are not clearly defined. Our aim was to estimate the overall frequency and risk factors for HT in a hospital-based population. <i>Methods:</i> A retrospective review of medical records of patients discharged from our department during the period 2004–2006 with a diagnosis of anterior IS. Demographic, clinical and hematological information was collected. Uni- and multivariate logistic regression analyses were used to estimate risk for spontaneous HT. <i>Results:</i> We included 240 patients (125 males, 52%), mean ag…

Incidence of multiple sclerosis in Bagheria City, Sicily, Italy.

We investigated the incidence of multiple sclerosis (MS) in a Sicilian community located at sea level. The study was a retrospective search for MS patients. Incidence was studied in the period from 1 January 1985 to 31 December 1994. We searched for definite MS patients, according to Poser's criteria, among the population resident in Bagheria (Palermo province). There were 25 subjects affected by MS, of which 20 were incident MS patients. The average annual incidence was 4.4 per 100 000 persons (n = 453 385 person-years). The incidence increased over time (1985-1989 = 3.5, 1990-1994 = 5.3). A parallel decrease of the interval between onset and diagnosis of MS was observed (1985-1989, 3.7 ye…

The relapse rate of multiple sclerosis changes during pregnancy: a cohort study

Objective – To evaluate the influence of pregnancy and puerperium on the relapse rate of multiple sclerosis (MS). Methods – We determined retrospectively the yearly mean relapse rate (MRR) during pregnancies occurring in the course of relapsing–remitting MS. We compared the MRR of pregnancy-time with that of non-pregnancy time by paired t-test. Relative risk (RR) of relapses during the pregnancy-time was also compared with that of non-pregnancy time by χ2 analysis and 95% confidence intervals. Results – From a population of 351 women affected by clinically definite MS, only 70 reported pregnancies during their relapsing–remitting phase of MS for a total of 98 pregnancies. Both MRR (P = 0.00…

EFFECT OF SERA FROM PATIENTS WITH MULTIPLE SCLEROSIS ON A BLOOD-BRAIN BARRIER IN VITRO MODEL.

A new road to improve vitamin D and balance through Taopatch® and proprioceptive protocol in Multiple Sclerosis patients

: In multiple sclerosis patients (MS), symptoms such as fatigue, lack of physical energy, spasticity, motor coordination disorders, tremors, dizziness and postural instability are most common. Cattaneo et al. (2007) studied the effects of stability training on MS patients, describing its efficacy in reducing all risks, by improving stability, and strength. The present study aimed to confirm our 2021 results on MS patients, combining the Taopatch® device with a proprioceptive rehabilitation protocol (PRP) targeting strength, balance, and biochemical parameters including vitamin D levels. Twenty MS patients, 8 males and 12 females, volunteered in the study. A KERN MAP Version 1.2 08/2012, Han…

Height as an indicator of early life events predicting Parkinson's disease: a case-control study.

Risk of Parkinson’s disease in women: effect of reproductive characteristics on the age at onset

SERUM URIC ACID, HOMOCYSTEINE, OXIDATIVE STRESS MARKERS AND VITAMINS IN MULTIPLE SCLEROSIS.

MORTALITY IN MULTIPLE SCLEROSIS. A POPULATION-BASED APPROACH

AN UNESPECTED ASSOCIATION BETWEEN INTRACRANIAL HYPOTENSION AND SPLIT CORD MALFORMATION

Frequency and determinants for hemorrhagic transformation of posterior cerebral stroke

Abstract Background hemorrhagic transformation is a threatening ischemic stroke complication. Frequency of hemorrhagic transformation differs greatly among studies, and its risk factors have been usually studied in patients with anterior ischemic stroke who received thrombolytic therapy. We evaluated, in a hospital-based series of patients with posterior ischemic stroke not treated with thrombolysis, frequency and risk factors of hemorrhagic transformation. Patients with posterior circulation stroke were seen in our Department during the period January 2004 to December 2009. Demographic and clinical information were collected. We estimated risk for spontaneous hemorrhagic transformation by …

Incidence of amyotrophic lateral sclerosis in Sicily: A population based study

Our objective was to investigate incidence of amyotrophic lateral sclerosis (ALS) in Sicily, southern Italy, by means of a population based study. We included people with ALS resident in fi ve Sicilian provinces, whose onset occurred in the two-year period 2005 2006 (population at 31 December 2006: 3,481,096 inhabitants). A multisource case-fi nding procedure was adopted and patients were classifi ed as affected by ALS according to revised El Escorial criteria. During the two-year surveillance period, 97 patients meeting eligibility criteria included 57 males (58.8%) and 40 females (41.2%). Crude annual incidence rate was 1.4/100,000 person years (95% CI 1.33 1.47). The incidence rate was h…

Heart involvement in patients treated with mitoxantrone for multiple sclerosis

Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings

Background: Multiple Sclerosis (MS) is a multifactorial disease whose pathogenesis is the result of interaction among genetic, epigenetic, and environmental factors. Among these, a role for vitamin D hypovitaminosis has emerged in recent decades. Vitamin D levels are influenced by both environmental and genetic factors. Single nucleotide polymorphisms (SNPs) in genes codifying for molecules involved in vitamin D metabolism have been associated with an increased risk of developing MS. However, few studies assessed the association of such SNPs with the severity of the disease. The aim of this observational study was to evaluate the potential association among vitamin D status, MS severity, an…

DYSAUTOMIC DISFUNCTON OCCURS EARLY IN PARKINSON DISEASE

Multiple Sclerosis in Southern Europe: Monreale City, Italy

<i>Background:</i> Several follow-up studies showed increasing prevalence and incidence rates for multiple sclerosis (MS). <i>Objective:</i> To ascertain, throughout a follow-up study, the incidence and prevalence of MS in the city of Monreale, Sicily, southern Italy. <i>Methods:</i> We calculated crude and age- and sex-specific prevalence rates on December 31, 2000, and determined incidence rates for the period January 1, 1992 to December 31, 2000. <i>Results:</i> The prevalence of MS was 71.2 per 100,000 population (48,5/100,000 in men; 93,0/100,000 in women). The incidence rate of MS for the period 1992–2000 was 4.0/100,000 per year. <i&…

VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients

Multiple sclerosis (MS) is a chronic demyelinating disease of central nervous system regarded as one of the most common causes of neurological disability in young adults. The exact etiology of MS is not yet known, although epidemiological data indicate that both genetic susceptibility and environmental exposure are involved. A poor vitamin D status has been proposed as the most attractive environmental factor. Several evidence have highlighted the importance of mutations in vitamin D-regulating genes for vitamin D status. The purpose of our study was to assess the genetic variants of VDBP and CYP27B1 in MS patients and in a control group. A total of 192 subjects, including 100 MS patients a…

Blood lipid, homocysteine, uric acid and vitamins in clinically stable Multiple Sclerosis patients

A decrease of antioxidants, of neuroprotective and immunoregulatory vitamins and an increase of total-Homocysteine, Cholesterol, HDL-cholesterol, and of cellular stress markers [1] was reported in patients affected by Multiple Sclerosis. Recently, considering their unreliability, mainly due to the variability of the samples investigated, the attention focused on clinical relapse that results associated to a decrease of Uric acid and an increase of Cholesterol and stress markers. Aim. To identify the biochemical status during Multiple Sclerosis (MS) in a phase of clinical stability (PCS), we compared the blood levels of Urico acid (UA), Folic acid (FA), vitamins B12, A, and E, total-Homocyst…

Tumor diagnosis preceding Parkinson's disease: A case-control study

Lower cancer risk in Parkinson's disease (PD) patients compared to the general population has been reported. However, most of the studies were based on death certificates. We designed a case–control study to estimate the association of tumor preceding PD onset and PD. PD patients were matched by age and gender to PD-free individuals, randomly selected from the municipalities of residence of cases. Occurrence of tumors preceding PD onset was assessed through a structured questionnaire. Neoplasms were categorized as benign, malignant, or of uncertain classification, and endocrine-related or not. Odds ratios (OR) were calculated using conditional logistic regression and adjusted for tumor cate…

Frequency of John Cunningham virus (JCV) DNA and of antibodies against JCV in patients affected by multiple sclerosis and their relationship with natalizumab therapy

Parkinson disease survival: a population-based study

Objective To evaluate whether the survival of patients with Parkinson disease (PD) is shorter than that of the general population. Design Survival was investigated in a cohort of patients with PD previously identified during a population-based prevalence study (prevalence day, November 1, 1987; reference follow-up date, October 31, 1995). The survival of patients with PD was compared with that of a control sample randomly selected from the same population (2 controls for each case, matched for age, sex, and study municipality). The causes of death in the 2 groups were also compared. Both univariate and multivariate survival analyses were performed to investigate the association with disease…

Leprosy: report of a case with severe peripheral neuropathy

Leprosy (Hansen's disease) is a chronic granulomatous infectious disease, caused by Mycobacterium leprae, with cutaneous and neurological manifestations. Leprosy is very rare in Europe but some cases are reported, especially among people coming from endemic areas. Here, we report a case of Hansen's disease and emphasize the importance of a prompt diagnosis and treatment also in non-endemic areas.

Purine metabolism and Multiple Sclerosis: different pattern according to different disease stage and different clinical form.

P422 Purine metabolism and multiple sclerosis: pattern varies according to disease stage and clinical form G. Salemi, M. Gueli, V. Cusimano, M. Lo Re, V. Lo Re, M.A. Mazzola, S. Realmuto, P. Ragonese, G. Savettieri University (Palermo, IT) Background: Serum concentration of uric acid (sUA) was variably associated with Multiple Sclerosis (MS). Many papers reported lower sUA in MS patients respect to healthy controls, expecially in course of relapse. This lower sUA was considered as a marker of oxidative stress. However, this association was not confirmed by many other papers. Recently, an increase in the concentration of sUA, hypoxanthine, xanthine, and sum of oxypurine (sPU) was reported in…

Dropped head as an unusual presenting sign of myasthenia gravis

A case control study to evaluate the relationship between cigarette smoking or coffee consumption and multiple sclerosis

Early and late mortality of spontaneous hemorrhagic transformation of ischemic stroke.

Background Hemorrhagic transformation (HT), a complication of ischemic stroke (IS), might influence patient's prognosis. Our aim is to evaluate, in a hospital-based series of patients not treated with thrombolysis, the relationship between HT and mortality. Methods We compared mortality of individuals with spontaneous HT with that of individuals without. Medical records of patients diagnosed with anterior IS were retrospectively reviewed. Outcome measures were 30- and 90-day survival after IS onset. Kaplan–Meier estimates were used to construct survival curves. Cox proportional hazards model was used to estimate hazard ratio (HR) for the main outcome measure (death). HT was stratified in he…

Further evidence of genetic heterogeneity in familial essential tremor.

Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease. (C) 2007 Elsevier Ltd. All rights reserv…

Mortality of multiple Sclerosis: a population based study.

Abortion induces reactivation of inflammation in relapsing-remitting multiple sclerosis

ObjectiveTo investigate clinical and radiological outcomes of women with relapsing-remitting multiple sclerosis (RRMS) undergoing abortion.MethodsAn independent, multicentre retrospective study was conducted collecting data from eight Italian MS centres. We compared the preconception and postabortion annualised relapse rate (ARR) and number of Gadolinium enhancing (Gd+) lesions, by analyses of covariance. Variables associated with postabortion clinical and MRI activity were investigated using Poisson regression models; each abortion was considered as a statistical unit.ResultsFrom 1995 to 2017, we observed 188 abortions (17 elective) in 153 women with RRMS. Abortions occurred after a mean t…

Stress ossidativo e neurodegenerazione.

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

Cholesterol level and hemorrhagic transformation after ischemic stroke

Purine metabolism in course of relapsing-remitting multiple sclerosis: a case-control study

How many parkinsonian patients are suitable candidates for deep brain stimulation of subthalamic nucleus? Results of a screening questionnaire.