Abstract
Objective: The aim of this study was to estimate the Friedreich’s ataxia (FRDA) prevalence 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. Methods: For the pointprevalence study, we considered patients belonging to families with a molecular diagnosis of FRDA and resident in Latium on 1 January 2019. The crude prevalence of FRDA,
specific for age and sex, was calculated and standardized for
age using the Italian population. Moreover, we investigated
possible correlations among patients’ genetic profile, symptoms, and age of onset. Results: We identified 63 FRDA patients; the crude prevalence for total, males, and females
were 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 inhabitants. We divided
FRDA patients by three age-at-onset groups (early-EOFA
73%; late-LOFA 11.1%; very late-VLOFA 15.9%) and 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
2 Neuroepidemiology Romano et al.
DOI: 10.1159/000525159
rate of progression, we performed a multivariate regression
analysis that gave an R2 value of 45.3%. Conclusions: We estimated the crude and standardized prevalence of FRDA in
Latium. A clinical classification (EOFA, LOFA, VLOFA) gave
significant correlations. This epidemiological estimate allows monitoring disease prevalence over time in cohort
studies and/or for developing disease registry
Lingua originale | English |
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pagine (da-a) | 212-218 |
Numero di pagine | 7 |
Rivista | Neuroepidemiology |
Volume | 56 |
DOI | |
Stato di pubblicazione | Pubblicato - 2022 |
Keywords
- Age-standardized prevalence
- Cohort Studies
- Cross-Sectional Studies
- Epidemiology
- Female
- Friedreich Ataxia
- Friedreich’s ataxia
- Humans
- Italy
- Male
- Prevalence