Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995-2009.

Recent genetic studies suggest a Sardinian type of amyotrophic lateral sclerosis (ALS). Thus, ALS incidence, prevalence and survival were investigated in a large population of Sardinians aimed to disclose population-specific patterns and their temporal changes. This is a population-based incidence and prevalence study in northern and central Sardinia, insular Italy (over 700,000 population).

Epilepsy in Sardinia, insular Italy: a population-based prevalence study.

Background: Sardinia, insular Italy, represents a particular epidemiological setting to investigate polyfactorial diseases, by virtue of its phylogeny and geographic isolation over time and of a well-established network of health operators and information systems. We present the first prevalence study of epilepsy conducted on a large Sardinian population by means of multiple source ascertainment.

Methods: Cases were ascertained in the province of Sassari (population of 333,576) for the period between January 1, 2000 and December 31, 2008 based on records from (a) the District Center for Epilepsy, (b) the District Health Information System Unit, and (c) the neurologists practicing within the National Health System.

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Objective: To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations.

Design: Population-based, prospective cohort study.

Patients: A total of 135 Sardinian patients with ALS and 156 healthy control subjects of Sardinian origin who were age- and sex-matched to patients.

Clustering of multiple sclerosis, age of onset and gender in Sardinia.

In diseases with unpredictably long latent period, such as multiple sclerosis (MS), cluster studies, and the analysis of disease distribution by gender and age of onset, can provide clues to disease etiopathogenesis. Sardinia, insular Italy, is among the regions at highest risk for MS worldwide. Multiple epidemiological evidences favour the role of exogenous factors in modulating MS incidence in Sardinians.

Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation.

Stem-cell transplantation can cure beta thalassaemia. We aimed to assess whether fetal HLA typing done early in the pregnancy of couples who were at risk of beta thalassaemia could provide an alternative to pregnancy termination if the prospect of a bone-marrow transplantation from a family member was available. In our clinic in Sardinia, we did fetal HLA typing for 49 couples at risk of having a baby with beta thalassaemia.