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A clinical and epidemiological prevalence study on Friedreich's Ataxia in Latium, Italy

This study aims at estimating the prevalence of FRDA in a highly populated region of Italy (previous studies in small geographic areas gave a largely variable prevalence), and to define the patients' molecular and clinical characteristics. For the point-prevalence study, patients belonging to families with a molecular diagnosis of FRDA and resident in Latium on 1 January 2019 were considered. The crude prevalence of FRDA, specific for age and sex, was calculated. Moreover, the authors investigated possible correlations of patients' genetic profile, symptoms and age of onset. 63 FRDA patients were identified; the crude prevalence for total, males and females was 1.07 (95%CI 0.81-1.37), 0.81 (95%CI 0.54-1.22) and 1.32 (95%CI 0.97-1.79), per 100,000. FRDA patients were divided by three age-at-onset groups (early-EOFA 73%; late-LOFA 11.1%; very late-VLOFA 15.9%), and the authors found significant differences in the scale for the assessment and rating of ataxia (SARA; p=0.001), a biased distribution of the shorter allele (p=0.001), an excess of scoliosis and cardiomyopathy (p=0.001) in EOFA. To determine the contribution of patients' molecular and clinical characteristics to the annual rate of progression, the investigators performed a multivariate regression analysis that gave an R2 value of 45.3%. This epidemiological estimate allows monitoring disease prevalence over time in cohort studies, and/or developing disease registry.

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