Nicola Fini

Emotions Induced by Intracerebral Electrical Stimulation of the Temporal Lobe

Summary:  Purpose: To assess the quality and frequency of emotions induced by intracerebral electrical stimulation of the temporal lobe.

Biting Behavior, Aggression, and Seizures

Summary:  Purpose: To describe the semiologic features of aggressive behaviors observed in human epileptic seizures with particular reference to the act of biting a conspecific.

Epidemiology of amyotrophic lateral sclerosis in Emilia Romagna Region (Italy): A population based study

Abstract Our objective was to describe incidence and clinical features of ALS from a prospective population-based study in Emilia Romagna Region (ERR). From 2009 onwards, a prospective registry recorded all incident cases of ALS among residents in the ERR (population, 4.4 million inhabitants), involving 17 neurological departments. For each patient, detailed demographic and clinical information was collected by caring physicians. Results showed that from 1 January 2009 to 31 December 2011, 347 patients received a new diagnosis of ALS with a crude incidence rate of 2.63/100,000/year. There was micro-geographic heterogeneity throughout ERR, with higher incidence rates in the low density population (3.27/100,000) (p < 0.01). ALS patients have been more frequently employed in agriculture than the general ERR population (8.64% vs. 4.6%, p < 0.01). Clinical features were similar to those described in previous population based studies. In conclusion, we report incidence rates similar to those reported by European registries, reflecting good accuracy of our prospective study. We confirmed previous studies reporting higher incidence rates in rural areas and among agricultural workers. Although genetics has been gaining increasing importance in ALS aetiology, some epidemiological data are still unexplained. Identifying geographical areas or populations with high incidence rates can be a starting point for identifying environmental risk factors. Further studies having this specific aim can shed light on these topics.

The impact of clinical factors, riluzole and therapeutic interventions on ALS survival: a population based study in Modena, Italy.

Abstract The prognostic role of riluzole, enteral nutrition (EN), non-invasive ventilation (NIV) and interdisciplinary care in ALS is still debated. A population based study has been performed focusing on ALS survival, with particular attention to prognostic factors and therapeutic intervention. All patients diagnosed with ALS between 2000 and 2009 and residing in Modena, Italy, have been registered. A centre for motor neuron disease (MND) has been active in our province since 2000, in addition to a prospective registry collecting all incident cases. One hundred and ninety-three incident cases have been collected during the 10 years of the study. Results demonstrated that median survival was 41 months (the overall three-year and five-year survival rates being 54.36% and 28.81%, respectively). Based on univariate analysis, factors related to survival were: age at diagnosis, gender, site of onset, phenotype, riluzole treatment and tracheostomy. In the Cox multivariable model, the factors independently related to a longer survival were age (p < 0.01), site of onset (p = 0.02) and riluzole treatment (p < 0.01), with a median gain in survival of 29 months (patients aged < 55 years compared with patients ≥ 55 years), 20 months (spinal versus bulbar onset), and 12 months (riluzole, yes vs. no), respectively. In conclusion, the study has confirmed the prognostic role of clinical features, but has surprisingly demonstrated that riluzole prolonged life significantly longer than NIV and EN. This observational study described the effects of ALS management in a setting that may approximate routine clinical practice more closely than randomized controlled trial (RCT); effects of uncontrolled potential confounders, however, cannot be excluded.

Ultrasound assessment of diaphragmatic function in patients with amyotrophic lateral sclerosis.

Evaluation of diaphragm function in Amyotrophic Lateral Sclerosis (ALS) is critical in determining when to commence non‐invasive mechanical ventilation (NIV).

Noninvasive and invasive ventilation and enteral nutrition for ALS in Italy.

Introduction: We performed a population‐based study to assess amyotrophic lateral sclerosis (ALS) survival after noninvasive ventilation (NIV), invasive ventilation (IV), and enteral nutrition (EN). Methods: We included patients diagnosed from 2000 to 2009 in Modena, where a prospective registry and a Motor Neuron Diseases Centre have been active since 2000. Results: Of the 193 incident cases, 47.7% received NIV, 24.3% received tracheostomy, and 49.2% received EN. A total of 10.4% of the patients refused NIV, 31.6% refused IV, and 8.7% refused EN. The median survival times after NIV, IV, and EN were 15, 19, and 9 months, respectively. Of the tracheostomized patients, 79.7% were discharged from the hospital; 73.0% were discharged to home. The median survival times for tracheostomized patients who were cared for at home and in nursing homes were 43 and 2 months, respectively. The multivariate analysis demonstrated that the place of discharge was the only independent prognostic factor after IV (P < 0.01). Conclusions: Service organizations may promote adherence to NIV, IV, EN, and influence postprocedure survival. These data may be useful in defining health plans regarding advanced ALS care and in patient counseling. Muscle Nerve 50: 508–516, 2014

Lead, cadmium and mercury in cerebrospinal fluid and risk of amyotrophic lateral sclerosis: A case-control study.

Exposure to neurotoxic chemicals such as pesticides, selenium, and heavy metals have been suggested to play a role in the etiology of amyotrophic lateral sclerosis (ALS). We assessed exposure to lead, cadmium, and mercury in 38 ALS patients (16 men and 22 females) and 38 hospital-admitted controls by using their cerebrospinal fluid (CSF) content as biomarker. We determined CSF heavy metal levels with inductively coupled plasma sector field mass spectrometry, according to a methodology specifically developed for this biological matrix. ALS patients had higher median values for Pb (155 vs. 132ng/L) but lower levels for Cd (36 vs. 72ng/L) and Hg (196 vs. 217ng/L). In the highest tertile of exposure, ALS odds ratio was 1.39 (95% CI 0.48-4.25) for Pb, 0.29 (0.08-1.04) for Cd and 3.03 (0.52-17.55) for Hg; however, no dose-response relation emerged. Results were substantially confirmed after conducting various sensitivity analyses, and after stratification for age and sex. Though interpretation of these results is limited by the statistical imprecision of the estimates, and by the possibility that CSF heavy metal content may not reflect long-term antecedent exposure, they do not lend support to a role of the heavy metals cadmium, lead and mercury in ALS etiology.

Magnetic fields exposure from high-voltage power lines and risk of amyotrophic lateral sclerosis in two Italian populations

Abstract The aetiology of amyotrophic lateral sclerosis (ALS), a rare and extremely severe neurodegenerative disease, has been associated with magnetic fields exposure. However, evidence for such a relation in the general population is weak, although the previous null results might also be due to exposure misclassification, or a relationship might exist only for selected subgroups. To test such a hypothesis we carried out a population-based case-control study in two Northern and Southern Italy regions, including 703 ALS cases newly diagnosed from 1998 to 2011 and 2737 controls randomly selected from the residents in the study provinces. Overall, we found that a residence near high-voltage power lines, within the corridors yielding a magnetic fields of ≥0.1 μT, was not associated with an excess disease risk, nor did we identify a dose-response relationship after splitting the exposed corridor according to the 0.1, 0.2 and 0.4 μT cut-points of exposure. These results were confirmed taking into account age at onset, period of diagnosis, sex, geographical area, and length of exposure. Overall, despite the residual possibility of unmeasured confounding or small susceptible subgroups not identified in our study, these results appear to confirm that the exposure to magnetic fields from power lines occurring in the general population is not associated with increased ALS risk.

Amyotrophic lateral sclerosis: a comparison of two staging systems in a population-based study.

To compare two recently developed staging systems for amyotrophic lateral sclerosis (ALS) [Kings College and Milano‐Torino staging (MITOS) systems] in an incident, population‐based cohort of patients with ALS.

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution

Cytoplasmic accumulation of the nuclear protein transactive response DNA‐binding protein 43 (TDP‐43) is an early determinant of motor neuron degeneration in most amyotrophic lateral sclerosis (ALS) cases. We previously disclosed this accumulation in circulating lymphomonocytes (CLM) of ALS patients with mutant TARDBP, the TDP‐43‐coding gene, as well as of a healthy individual carrying the parental TARDBP mutation. Here, we investigate TDP‐43 subcellular localization in CLM and in the constituent cells, lymphocytes and monocytes, of patients with various ALS‐linked mutant genes.