Gianfranco Sau

Epidemiology of Multiple Sclerosis in Northwestern Sardinia: Further Evidence for Higher Frequency in Sardinians Compared to Other Italians

The Sardinians are an ethnically homogeneous population, having a genetic structure quite different from that of all other Italian and European populations. All epidemiological studies carried out in Sardinia since 1975 indicate that this Mediterranean island shows twice the prevalence of multiple sclerosis (MS) compared to continental Italy, but the size of the Sardinian communities so far surveyed has been too small to draw definitive conclusions. To overcome this draw-back, we have studied the frequency of MS in a well-defined area of north-western Sardinia, with a population of about 270,000 in the 1991 census. Based on 276 MS cases, the prevalence on December 31st, 1991, was 102.6 per 100,000. The incidence, averaging 2 per 100,000 in the period of 1962 to 1971, rose to 5 in the period from 1977 to 1991. The present study confirms the higher frequency of MS among Sardinians compared to other Italian populations. Genetic, linguistic and historical data suggest a role of environmental and genetic factors in determining the notable difference in MS risk between Sardinia and the rest of Italy.

Visual and auditory event-related potentials in sporadic amyotrophic lateral sclerosis

OBJECTIVES To investigate the relationship between amyotrophic lateral sclerosis (ALS) and cognitive function by means of oddball event-related potentials (ERPs) and to determine the usefulness of this methodology in the cognitive status assessment of physically disabled patients. METHODS Visual and auditory oddball ERPs were recorded in 16 consecutive sporadic ALS patients. A comprehensive battery of neuropsychological (NP) tests assessed intelligence, executive functions, attention, memory, word fluency, visuo-motor and visual-constructive skills. RESULTS All patients performed visual and auditory ERPs and 75% of cases showed abnormal N200 and/or P300 waves. Ten patients (62.5%) carried out the entire psychometric evaluation with significant impairment on tests of executive function and attention. A significant correlation between delayed visual (P<0.04) and auditory (P<0.04) P300 latency and impaired NP tests was found. CONCLUSIONS In agreement with literature data, our findings confirm the hypothesis of cognitive impairment in ALS patients especially on attention and executive functions suggesting a more extensive degeneration beyond the motor areas. ALS causes severe physical disabilities and such a condition may interfere with NP testing. Thus, the P300 seems to be a useful tool for the assessment of cognition and attention when severe physical deficits are present.

Epidemiology of Myasthenia gravis in Northwestern Sardinia

A previous epidemiological study on myasthenia gravis (MG) in Sardinia indicated a prevalence rate of 4.5 per 100,000 population and an incidence of 0.25 per 100,000 population in the period 1958-1986. This study, however, investigated the entire Sardinian population (about 1,500,000) and the reported rates are likely to be underestimated. Because the use of a very large population has been found to cause major bias in case finding, the present study was designed to overcome this bias by determining the prevalence and incidence of MG in a well-defined area of Northwestern Sardinia, with a population of about 270,000 (1991 census). Potential MG cases were ascertained using all possible medical sources. The diagnosis of MG was based on the clinical, neurophysiological and conventional pharmacological findings (Tensilon test, response to anticholinesterases). On prevalence day (December 31, 1994) 29 MG patients were living in the study area (17 women and 12 men). Since the total population on prevalence day was 268,926 (137,284 women and 131,642 men), the calculated prevalence was 11.1 per 100,000 population (12.4 women and 9.9 men). The present study shows that the risk of MG in Sardinia is higher than previously suggested. The risk, however, is not significantly different from that found in other comparable Italian and European areas. It contrasts with what has been found for other autoimmune diseases such as multiple sclerosis and insulin-dependent diabetes mellitus in Sardinians, both showing frequencies up to 3-5 times higher than in the rest of Italy.

Asterixis and toxic encephalopathy induced by gabapentin

PURPOSE To date, only one case of asterixis associated with the use of gabapentin (GBT) has been reported. No data, instead, are available on the occurrence of asterixis related to a dementing encephalopathy during GBT therapy in the elderly. METHODS Case reports of two elderly patients, one with asterixis, the other with asterixis and encephalopathy, associated with the use of GBT, as adjunctive therapy, at dosages of 900 to 3600 mg/day are given. In one patient, GBT was added to oxcarbazepine (OXCBZ). FINDINGS Both patients experienced resolution of the clinically apparent asterixis, and of the toxic encephalopathy, on discontinuation or reduction of GBT dosages. One patient developed asterixis after drug rechallenge. In the patient on OXCBZ, the analysis of the electromyogram (EMG) activity showed the occurrence of a subclinical asterixis. CONCLUSIONS Our study indicates that high doses of GBT may induce asterixis related to a reversible encephalopathy. Low doses of GBT, instead, may induce a disabling asterixis when given in combination with OXCBZ because of a synergistic interaction between these drugs.