An ecologic study of geographical variation in multiple sclerosis risk in central Sardinia, Italy.

We carried out an ecological study in the most archaic area of Sardinia to obtain a reliable estimate of the prevalence of multiple sclerosis (MS) and to investigate the geographical variation in the prevalence across the 100 administrative communes. To estimate the area-specific prevalence rate, we adopted a Bayesian approach that makes it possible to filter out the random variation from the estimates and to obtain a map that reflects the true geographical variation in MS prevalence. 428 resident cases were identified by the case register, including 69 multiplex families. The overall prevalence was 157 per 100,000 inhabitants. The Bayesian area-specific prevalence ranged from 143 to 262/100,000. The high prevalence and its moderate geographical variation in a genetically homogeneous population, as well as the high number of multiplex families observed in the communes with the highest prevalence, could be interpreted as representing a high susceptibility of the population to MS.

Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia.

Association and linkage studies have established the importance of the major histocompatibility complex (MHC) in the susceptibility for multiple sclerosis (MS). We carried out a case-control study to investigate the ancestral haplotype A30B18DR3 and MS in the Nuoro population of Sardinia, which is isolated and genetically distinct from other populations in the Mediterranean basin and characterized by genetic homogeneity, high level of inbreeding, low migration, high prevalence of MS, high frequency of the relevant haplotype, and high past malaria prevalence. Cases and controls were serologically typed for the currently recognized HLA-A, B, and DR antigens. We used a log-linear approach to fit a wide class of models. We tested our hypothesis comparing different models via a likelihood ratio test. We overcame the complication due to unknown gametic phase using expectation-maximization (EM) algorithm as the estimation method. We estimated confidence intervals for odds ratio by using a profile likelihood approach. We found that: (1) the ancestral haplotype A30B18DR3 was associated to MS after allowing for a possible stratification in cases and controls; (2) DR3 allele was conditional independent on disease status, given A30B18 haplotype; (3) there was a tendency for ORs for the high-risk haplotypes to be higher in the high malaria strata; however, this indication did not achieve statistical significance (P = 0.11).

Efficacy of carbamazepine on cerebellar tremors in patients with superior cerebellar artery syndrome.

Three patients with postural and intention cerebellar tremor caused by a cerebellar infarction in the superior cerebellar artery distribution were studied; treatment with carbamazepine resulted in marked improvement.

Treatment of cerebellar tremors with carbamazepine: a controlled trial with long-term follow-up.

We studied the effects of carbamazepine (CBZ) (400 and 600 mg per day) in 10 patients with cerebellar tremors in a single-blind manner. All patients improved on a clinical rating scale and by accelerometric recording; there was no improvement with placebo. Our data suggest that CBZ may be a valuable drug in cerebellar tremors.

Role of the intraoperative real-time sonography in the tumours of the pineal region and third ventricle.

Real-time ultrasound was used to assist localization and surgical removal of ten cases of tumours of pineal region and third ventricle. Two illustrative cases are reported in which intraoperative ultrasound greatly facilitates the surgical procedure.