Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), University of Rome "Sapienza," S. Andrea Hospital, Rome, Italy.
National Centre for Disease Prevention and Health Promotion, National Institute of Health, Rome, Italy.
Neuroepidemiology. 2022;56(3):212-218. doi: 10.1159/000525159. Epub 2022 May 30.
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.
For the point-prevalence 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.
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 rate of progression, we performed a multivariate regression analysis that gave an R2 value of 45.3%.
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.
本研究旨在评估意大利人口稠密地区（先前在小地理区域进行的研究给出了差异较大的患病率）弗里德里希共济失调症（FRDA）的患病率，并确定患者的分子和临床特征。
对于时点患病率研究，我们考虑了在 2019 年 1 月 1 日居住在拉齐奥地区的具有 FRDA 分子诊断的家族中的患者。使用意大利人口对 FRDA 的总患病率、按性别和年龄标准化，并使用意大利人口对年龄进行标准化。此外，我们还研究了患者的遗传特征、症状和发病年龄之间的可能相关性。
我们确定了 63 例 FRDA 患者；总患病率、男性和女性分别为 1.07（95%置信区间：0.81-1.37）、0.81（95%置信区间：0.54-1.22）和 1.32（95%置信区间：0.97-1.79）/100,000 居民。我们将 FRDA 患者分为三个发病年龄组（早发性 EOFA 73%；晚发性 LOFA 11.1%；非常晚发性 VLOFA 15.9%），并发现了在共济失调评估和评分量表（SARA；p=0.001）、较短等位基因的偏置分布（p=0.001）、脊柱侧凸和心肌病（p=0.001）方面的显著差异。为了确定患者的分子和临床特征对疾病进展速度的贡献，我们进行了多元回归分析，得到了 45.3%的 R2 值。
我们估计了拉齐奥地区 FRDA 的粗患病率和标准化患病率。临床分类（EOFA、LOFA、VLOFA）给出了显著的相关性。这种流行病学估计可以在队列研究中或为了建立疾病登记处，监测疾病随时间的流行率。
