The observation of a high number of patients with ALS among former soccer players led researchers to verify if and by which mechanisms professional soccer is a risk factor for ALS. The Laboratory of Neurological Diseases showed in the past an association between ALS and repeated traumatic events and an earlier onset of symptoms in ALS patients who had been physically active. On this background, a retrospective cohort study was performed to verify whether former soccer players are at higher risk of death for ALS than the Italian population. At the present time we are performing a study follow up to verify if other professional sports represent risk factors for ALS and if the same risk is present in different European countries.

Since 1998 in Lombardy, Northern Italy, a regional ALS registry has been active for the calculation of the incidence of the disease, the assessment of long-term prognosis and the study of a number of putative risk factors (trauma, physical exercise, diet). A recent study in the same area has shown no substantial trends in the incidence of ALS and in survival trends. This observation could be explaned by the introduction of palliative care and symptoms management. By the way, this observation is in contrast with other reports showing a recent increase of the incidence of the disease. The registry is included in a consortium of active European registries for the study of genetic and environmental risk factors. By the registry’s data it is possible to better investigate all disease aspect to identify new horizons towards which to direct targeted research. Actually, we are looking for potential drug-drug- interaction that could play a role in prognoses and/or patients' quality of lives.

Epilepsy can be treated with several marketed anti-seizure medications (ASM). However, accurate data about the maintenance dose of drugs to be administered in patients with newly diagnosed epilepsy and the time for discontinuation of ASM in seizure-free patients are missing. The Laboratory of Neurological Disorders designed a multicenter pragmatic randomized trial comparing standard doses of ASM and the half of the same doses (low doses) in patients with newly diagnosed epilepsy. The study will verify the impact of the two therapeutic strategies on the recurrence of seizures and the achievement of prolonged periods of remission. The Laboratory is also collaborating with the Epilepsy Center of the University of Catanzaro to carry out a randomized multicenter trial comparing rapid ASM withdrawal (2 months) versus slow withdrawal (6 months). In both studies, patients are enrolled in epilepsy centers located throughout Italy.

The Laboratory is involved in the conduction of a national study which intends to evaluate whether a home video is a sufficient tool to make a differential diagnosis between psychogenic non-epileptic seizures (PNES) and other events (epileptic seizures, syncope, parasomnia, movement disorders, etc.). The current diagnostic gold standard recommends that attacks must be recorded on video with concomitant EEG/ECG monitoring, a technique available only in high-level healthcare settings. In this study we will also analyze the diagnostic value of questionnaires for the patient and for the witness of the seizures, in addition to home videos. Currently, there are no studies assessing the cumulative diagnostic value of gathering such data in addition to home videos before undergoing a full investigation with video-EEG monitoring.

The epileptic encephalopathies FIRES (Febrile Infection-Related Epilepsy Syndrome) and NORSE (New-Onset Refractory Status Epilepticus) are rare forms of epilepsy present in subjects in developmental and, respectively, adult age. These forms are severe, drug-resistant and presumably with immune pathogenesis. Recently, international research groups have shown the possibility of improving the clinical conditions of affected patients using Anakinra (an interleukin-1 receptor antagonist). This prompted us to undertake ​​a retrospective observational study to evaluate the efficacy of Anakinra in a cohort of children and adults. This study involves intensive care units and centers for the treatment of pediatric and adult epilepsy.

tudies on the long-term prognosis of epilepsy have shown that the disease evolves according to different patterns which involve the concept of resistance to drug treatments (drug resistance). As observed in previous studies, drug-resistance is a dynamic concept and refractoriness to treatment depends only in part on the classification of each patient into well-defined syndromic categories. The Laboratory of Neurological Disorders has recently completed a study about prognostic factors and drug resistance in a large cohort of patients recruited in epilepsy centers located throughout the country.

Incidence of sudden unexpected death in epilepsy (SUDEP) is 1 per 1000 people with epilepsy (PWE) per year and is 27 times higher than in the general population. The Laboratory is the Italian coordinator of an international case-control study in which SUDEP cases are prospectively identified and matched to living subjects with epilepsy to identify factors associated with an increased risk of SUDEP and prevent avoidable deaths. The study is part of a larger project called EpiNet which includes observational and experimental studies performed using a centralized international web platform.

The growth and aging of the world population and the effects of campaigns for the prevention and control of communicable diseases in developing countries have contributed to significantly change the impact of diseases in the world. The Laboratory is collaborating with the Institute of Health Metrics and Evaluation in Seattle to analyze the data collected on epilepsy and neurological diseases globally and, more specifically, in the European Union. Analyses of these data pointed out that the burden of idiopathic epilepsy (premature mortality and residual disability) has progressively decreased since 1990, while an inverse trend has been observed for Alzheimer's disease and Parkinson's disease.

The Laboratory is involved in the preparation of surveillance tools for the neurological manifestations associated with the COVID-19 pandemic. The tools include a European registry promoted by the European Academy of Neurology (EAN) and modules for the collection of global data on acute and post-acute phases of the pandemic promoted by the World Health Organization (WHO).

During its course, ALS leads to an increasing need for assistance. Needs, expectations and priorities of patients may vary according to the severity and staging of the disease and differ from those of caregivers and caring physicians. Dissatisfaction with care has negative effects on quality of life. It is also necessary to verify the adherence to evidence based guidelines in clinical practice. Based on this background, we are performing a prospective cohort study investigating if needs, expectations and priorities of patients with ALS vary according to the severity and staging of the disease and differ from those of caregivers. This study has medical and social implications, as the results can help to identify new strategies to improve the health care provided by the National Health System, satisfy the needs of those involved with ALS, and ameliorate their quality of life.