[Show abstract][Hide abstract] ABSTRACT: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease associated with a positive familial history in 5-10% of ALS cases. Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12%-23% of patients diagnosed with familial ALS. Here we report a novel mutation in exon 4 of SOD1 gene in a 55-year-old ALS patient belonging to a large Italian family with ALS first clinically described in 1968. In the family the clinical presentation was characterized by relatively early age of onset, spinal onset with proximal distribution weakness, bulbar involvement and a rapid disease course. Molecular analysis showed a heterozygous mutation at codon 106 resulting in a substitution of phenylalanine for leucine in the SOD1 protein (L106F). In analogy with the previously reported L106V mutation, we propose that the L106F causes a relevant destabilization of the protein chain around the mutation site, able to affect the SOD1 monomer and dimer structures suggesting a pathogenic role for this novel mutation.
Journal of the neurological sciences 04/2010; 293(1-2):112-5. DOI:10.1016/j.jns.2010.03.009 · 2.26 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We carried out a retrospective incidence, prevalence and mortality survey of myasthenia gravis in the province of Reggio Emilia in Northern Italy. Based on 49 patients, the mean incidence per year for the period 1980 through 1994 was 7.8 per 1,000,000. On 31 December 1994 the prevalence rate was 117.5 per 1,000,000 for all patients, either active or recovered (50 cases in a population of 427,493) and 103.4 per 1,000,000 for the active disease. In the 15-year period 1980-1994 the average mortality rate was 1.0 per 1,000,000 per year. The average age at onset was 44.6 +/- 21.0, and the average age at the time of prevalence determination was 51.1 +/- 19.6 for the active disease. At the time of diagnosis, 21 patients (36.8%) were classed in group I according to Osserman's criteria, 31 in group II (54.4%), (19 in group II-A and 12 in group II-B), and the other 5 (8.8%) in group III. Of all the prevalence cases, 6 (12%) were in remission without therapy and 6 with therapy, while most of the others 16 (32%) were classed in group I, 15 (30%) in group II, and 1 (2%) in group III. Thymectomy was performed in 20 patients (35.1%), 12 (21%) had thymoma (malignant in 4 cases), 6 had thymic hyperplasia while in two patients thymic histology was normal. The relation the grade of Osserman's scale at the time of incidence and the presence of thymoma were significant. Higher grades of Osserman's scale were associated were malignant thymoma. Furthermore the relationship between thymectomy and the grade of Osserman's scale at the date of prevalence was significant for the presence of lower grades of Osserman's scale in the patients submitted to thymectomy.
European Journal of Epidemiology 07/1998; 14(4):381-7. DOI:10.1023/A:1007449221638 · 5.15 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We carried out a retrospective incidence, prevalence and mortality survey of amyotrophic lateral sclerosis (ALS) in the province of Reggio Emilia, northern Italy. Based on 79 patients, the mean incidence per year for the period 1980 through 1992 was 1.5 cases per 100,000. On December 31st, 1992, the prevalence rate was 5.4 per 100,000. In the 10-year period of 1983-1992 the average mortality rate was 1.3 per 100,000 per year. The average age at onset was 61.3 +/- 10.2, the average survival period thereafter was 26.3 months +/- 17.7; 27.3 +/- 17.6 for classic ALS, 19.5 +/- 8.4 for progressive bulbar palsy and 36.3 +/- 41.4 for pseudopolyneuritic ALS. The incidence rate, recorded in public health district No.12, an area with documented lead pollution since the 1970s, was standardized to the sex and age of the population of the province. Its incidence and prevalence rate were comparable to the rates found in the remaining area of the province.
[Show abstract][Hide abstract] ABSTRACT: A retrospective epidemiological study on the first episode of stroke in young adults aged 15-44 years was carried out in the territory of the Local Health Unit No. 9 in Reggio Emilia (46,491 km2), Italy, from 1987 to 1989. 29 patients were identified: 17 were affected with cerebral infarction and 12 with hemorrhage. All young patients were discharged with diagnostic codes 430-438 according to the International Classification of Disease, i.e. the criteria of the World Health Organisation for stroke definition. All patients had computed tomography or necropsy. The average annual incidence rate per 100,000 population aged 15-44 for all strokes was 13.6 and the 95% confidence interval (CI 95%) was 9.1-19.6. The general population of the same age on January 1, 1987, was 69,845 and 71,920 on December 31, 1989; the incidence rate of stroke was 14.0 for males (CI 95% 7.9-2.3) and 13.2 (CI 95% 7.1-22.2) for females. The average annual incidence rates were 8.0 (CI 95% 4.7-12.2) for cerebral infarction (8.4, CI 95% 3.9-16 for males, 7.6, CI 95% 3.3-14.9 for females), 5.6 (CI 95% 2.9-9.9) for cerebral hemorrhage and 2.8 (CI 95% 1.0-6.1) for both subarachnoid (SAH) and intracerebral hemorrhage (ICH). Based on angiography or necropsy findings, aneurysms or arteriovenous malformations were present in 83% of the patients with SAH and in 66% of the patients with ICH. The 1-month fatality ratio was 0 for cerebral infarction, 50% for SAH and 33% for ICH.(ABSTRACT TRUNCATED AT 250 WORDS)