Squitieri F, Griguoli A, Capelli G, Porcellini A, D'Alessio B
IRCCS Neuromed, Pozzilli, Italy.
University of Cassino, Cassino, Italy.
Clin Genet. 2016 Mar;89(3):367-70. doi: 10.1111/cge.12574. Epub 2015 Mar 15.
Huntington disease (HD) prevalence shows geographic variability and has been recently updated by taking into account the mutation diagnostic test. In Italy, the last epidemiological estimation was reported well before the HTT gene discovery and the availability of the corresponding genetic test. It reported a prevalence of affected subjects ranging between 2.3 and 4.8/100,000 in some restricted areas of Northern Italy. We have performed a service-based epidemiological analysis in a very restricted geographic area named Molise, where our institutions currently operate and represent the only point of reference for rare neuropsychiatric diseases. The estimated prevalence rate found was 10.85/100,000 (95% confidence interval (CI): 7.20-14.50), remarkably higher than that previously described before the gene test analysis was available, and expected to an increase of an additional 17% by 2030, because of Italian population aging. According to our analysis, we estimate that about 6500 subjects are currently affected by HD in Italy, and that this number will further increase in the next decades because of population aging, variable phenotype penetrance and improved life expectancy.
亨廷顿舞蹈症（HD）的患病率呈现出地理差异，并且最近通过纳入突变诊断测试进行了更新。在意大利，上一次流行病学估计是在HTT基因发现及相应基因检测可用之前很久就报告的。报告称在意大利北部的一些特定地区，患病个体的患病率在2.3至4.8/10万之间。我们在一个名为莫利塞的非常有限的地理区域进行了基于服务的流行病学分析，我们的机构目前在该地区开展业务，并且是罕见神经精神疾病的唯一参考点。发现的估计患病率为10.85/10万（95%置信区间（CI）：7.20 - 14.50），显著高于基因检测分析可用之前所描述的患病率，并且由于意大利人口老龄化，预计到2030年患病率还将额外增加17%。根据我们的分析，我们估计目前意大利约有6500名个体受HD影响，并且由于人口老龄化、可变的表型外显率和预期寿命的提高，这一数字在未来几十年将进一步增加。
