Graziella Quattrocchi

Treatment of essential tremor: A systematic review of evidence and recommendations from the Italian Movement Disorders Association

Essential tremor (ET) is one of the most common movement disorders of adults, characterized by postural and kinetic tremor. It often causes embarrassment and more rarely serious disability, requiring treatment. To assess the current state of knowledge on ET therapy and produce recommendations based on the analysis of evidence the authors reviewed the literature regarding pharmacologic and surgical therapies, providing a quality assessment of the studies and the strength of recommendations for each treatment. A committee of experts selected clinical-based questions to guide the search. A systematic literature review was performed to identify all the studies conducted on patients with ET published until September 2010. Articles were classified according to GRADE evidence profile, a system for grading the quality of evidence and the strength of recommendation based on the quality of the studies. The quality of evidence was often rated as “low” or “very low” for the studies analyzed. Propranolol, long-acting propranolol, primidone, and topiramate are recommended as first-line therapy, with restrictions for their side effects. Arotinolol, sotalol, ICI 118.551 and LI 32.468 (experimental drugs), zonisamide, gabapentin, alprazolam, clozapine, and olanzapine are recommended as a second-line treatment. Botulinum toxin type A and thalamic deep-brain stimulation are recommended for refractory ET. The results highlight the need of well-designed direct comparison trials aimed at evaluating relative effectiveness and safety of the drugs currently used in clinical practice. Furthermore, additional controlled clinical trials are required to define other possible treatment strategies for ameliorating the management of ET.

Physical and Cognitive Stimulation in Alzheimer Disease. The GAIA Project A Pilot Study

Several data suggest that physical activity and cognitive stimulation have a positive effect on the quality of life (QoL) of people with Alzheimer’s disease (AD), slowing the decline due to the disease. A pilot project was undertaken to assess the effect of cognitive stimulation, physical activity, and socialization on patients with AD and their informal caregiver’s QoL and mood. Fourteen patients with AD were randomly divided into active treatment group and control group. At the end of treatment, a significant improvement in apathy, anxiety, depression, and QoL in the active treatment group was found. Considering caregivers, those of the active treatment group exhibited a significant improvement in their mood and in their perception of patients’ QoL. This study provides evidence that a combined approach based on cognitive stimulation, physical activity, and socialization is a feasible tool to improve mood and QoL in patients with AD and their caregivers.

Increasing frequency of multiple sclerosis in Catania, Sicily: a 30-year survey

Background and Objective: The objective of this study was to determine the prevalence and incidence of multiple sclerosis (MS) and its temporal profiles from 1975 to 2005 in the city of Catania. Methods: The incidence of MS from 1975 to 31 December 1999 had been previously investigated by the same group. The frequency of MS in the community of Catania from 1 January 2000 to 31 December 2004 was studied in a population of 313,110 inhabitants (2001 census). All patients who satisfied Poser’s criteria were considered as prevalent and incident cases. Results: Three hundred and ninety-eight patients with MS who had experienced the clinical onset of the disease before 31 December 2004 were found in a population of 313,110 inhabitants. The prevalence rate was 127.1/100,000 [95% confidence interval (CI) 115.1–140.4]. From 2000 to 2004, 108 patients with MS had clinical onset of the disease. The mean annual incidence was 7.0/100,000 (95% CI 5.7–13.7) and was higher in women (8.4/100,000; 95% CI 6.4–10.5) than in men (5.3/100,000; 95% CI 3.7–7.2). The mean length of time between the date of clinical onset and the date of the diagnosis was 1.4 ± 1.7 years. During the last 30 years the incidence of MS in this population increased from 1.3/100,000 during the first quinquennium (1975–9) to 7.0/100,000 during 2000–4. Conclusions: Incidence rates have further increased in this population, suggesting that the risk of MS is still increasing.

Multiple Sclerosis and CCSVI: A Population-Based Case Control Study

Background Chronic cerebrospinal venous insufficiency (CCSVI) has been associated to multiple sclerosis (MS). Objective To evaluate the possible association between CCSVI and MS, using a population-based control design. Methods A random cohort of 148 incident MS patients were enrolled in the study. We have also studied 20 patients with clinically isolated syndrome (CIS), 40 patients with other neurological diseases (OND), and 172 healthy controls. Transcranial (TCC) and Echo Color Doppler (ECD) were carried out in 380 subjects. A subject was considered CCSVI positive if ≥2 venous hemodynamic criteria were fulfilled. Results CCSVI was present in 28 (18.9%) of the MS patients, in 2 (10%) of CIS patients, in 11 (6.4%) of the controls, and in 2 (5%) of the OND patients. A significant association between MS and CCSVI was found with an odds ratio of 3.41 (95% confidence interval 1.63–7.13; p = 0.001). CCSVI was significantly more frequent among MS subjects with a disease duration longer than 144 months (26.1% versus 12.6% of patients with duration shorter than 144 months; p = 0.03) and among patients with secondary progressive (SP) and primary progressive (PP) forms (30.2% and 29.4, respectively) than in patients with relapsing remitting (RR) MS (14.3%). A stronger association was found considering SP and PP forms (age adjusted OR = 4.7; 95% CI 1.83–12.0, p = 0.001); the association was weaker with the RR patients (age adjusted OR = 2.58; 95%CI 1.12–5.92; p = 0.02) or not significant in CIS group (age adjusted OR = 2.04; 95%CI 0.40–10.3; p = 0.4). Conclusions A higher frequency of CCSVI has been found in MS patients; it was more evident in patients with advanced MS, suggesting that CCSVI could be related to MS disability.

Epilepsy-associated stigma in Bolivia: A community‐based study among the Guarani population: An International League Against Epilepsy/International Bureau for Epilepsy/World Health Organization Global Campaign Against Epilepsy Regional Project

Epilepsy is associated with a significant burden of social stigma that appears to be influenced by psychosocial and cultural factors. Stigma has a negative effect on the management of people with epilepsy (PWE), representing one of the major factors that contribute to the burden of epilepsy. To assess stigma perception among the Guarani population, one hundred thirty-two people living in Guaraní communities in Bolivia were invited to complete the Stigma Scale of Epilepsy questionnaire. The main determinants of stigma identified were: the fear linked to loss of control, the feelings of sadness and pity toward PWE, the difficulties faced by PWE in the professional and relationship fields, the level of education and type of seizure. Our study pointed out that, in this population, PWE face difficulties in everyday life because of epilepsy-associated stigma and the results attest to the importance of promoting community-based educational programs aimed at reducing the stigmatization process.

Executive Dysfunctions in Migraine With and Without Aura: What Is the Role of White Matter Lesions?

Executive dysfunctions and white matter lesions on magnetic resonance imaging have been reported in migraine. The aim of this study was to determine whether any correlation between these 2 variables exists.

Sociocultural dimension of epilepsy: An anthropological study among Guaraní communities in Bolivia—An International League Against Epilepsy/International Bureau for Epilepsy/World Health Organization Global Campaign Against Epilepsy Regional Project

This study was performed to analyze sociocultural beliefs about epilepsy among Guaraní communities in Bolivia. People with epilepsy, their family members, the general population, and local health care personnel were interviewed about the meaning of and beliefs, feelings, and practices concerning epilepsy. Epilepsy is called mano-mano, a term that means being in a constant passage between life and death. The disease is attributed mainly to a failure to observe a fasting period and to other eating habits. Natural remedies are the most recommended treatments even though half of respondents reported that antiepileptic drugs may be effective. The concept of epilepsy as an embodied disease with natural causes appears to differ from that documented in other traditional societies. People with epilepsy do not represent a threat to the community, which seems to have an attitude aimed at their protection. Moreover, people from these communities appear to favor a combination of biomedical and traditional care systems.

Lack of interaction between LRP1 and A2M polymorphisms for the risk of Alzheimer disease

Alzheimer disease (AD) has a heterogeneous aetiology, involving genetic and environmental factors. Low-density lipoprotein receptor-related protein 1 (LRP1), alpha-2-macroglobulin (A2M) and apolipoprotein E (APOE) are involved in molecular pathways leading to beta-amyloid deposition. Three polymorphic sites in these genes (APOE-epsilon 2/epsilon 3/epsilon 4, A2M-Ile/Val and LRP1-C/T) have been associated with AD, but the results were not univocal. We carried out a case-control study to investigate the association between these polymorphisms and the risk of developing AD and their possible interaction. We recruited 125 AD patients who fulfilled the diagnostic criteria proposed by NINCDS-ADRDA for probable or possible AD and 310 controls subjects. PCR was used to detect the polymorphisms. ORs and 95% CIs were estimated using logistic regression analysis. The OR for subjects carrying at least one allele Val (A2M-Val+) in their genotypes was 1.52 (95% CI 1.00-2.31; p=0.05); for subjects carrying at least one allele C (LRP1-C+), 1.58 (95% CI 1.00-2.50; p=0.05); for subjects carrying at least one allele epsilon 4 (APOE-epsilon 4+), 3.1 (95%CI 1.87-5.00; p<0.001). The coexistence of at least one allele Val (A2M-Val+) and one allele C (LRP1-C+) increased up two times the risk of AD (OR 2.32; 95% CI 1.23-4.35; p<0.009). No evidence of significant interaction has been found between the studied polymorphisms (p>0.05). In conclusion our study suggests that LRP1-C/T, A2M-Ile/Val and APOE-epsilon 2/epsilon 3/epsilon 4 polymorphisms are associated with AD.

Restless legs syndrome and multiple sclerosis: a population based case−control study in Catania, Sicily

A population‐based case−control study in the city of Catania, Sicily, was carried out to determine restless legs syndrome (RLS) prevalence and its association with multiple sclerosis (MS).

Prevalence and Incidence of Epilepsy Associated with Convulsive Seizures in Rural Bolivia. A Global Campaign against Epilepsy Project.

Objective we performed a three-stages door-to-door survey to estimate incidence and prevalence of epilepsy associated with convulsive seizures (EACS) in a rural area of Bolivia. Methods the study was carried out in the Cordillera Province, southern-eastern Bolivia. One hundred fourteen rural communities with a total population of 18,907 inhabitants were included in the survey. In order to identify subjects with EACS, trained fieldworkers administered a validated single screening question to the householders (stage I). A second face-to-face questionnaire was administered to each positive subject (stage II) that, in case of positive answer, underwent a complete neurological examination to confirm the diagnosis (stage III). We estimated age and sex specific life-time and active EACS prevalence at the prevalence day (30th June 2010). Incidence risk was evaluated for the 10-year period between January 2000 and December 2010. Results on prevalence day we identified 136 subjects with EACS, 124 of whom had active epilepsy. The life-time prevalence of EACS was 7.2/1,000 (7.6/1,000 age-adjusted to the world standard population) while the prevalence of active EACS was 6.6/1,000 (6.7/1,000 age-adjusted to the world standard population). Both life-time and active prevalence showed a peak (10.3/1,000) in the 15–24 years age group and, overall, were higher among women. During the incidence study period, 105 patients living in the study area had the onset of EACS. The crude incidence risk was 55.4/100,000 (49.5/100,000 age-adjusted to the world standard population). Incidence was slightly but not significantly higher among women (58.9/100,000 versus 51.9/100,000). Conclusions the present study demonstrated a considerable burden of EACS in the Bolivian Chaco, showing prevalence and incidence estimates close to those reported for low and middle- income countries and underlying the need of treatment programs.