Supplementary Material for: The Prevalence of Huntington's Disease

<b><i>Background:</i></b> Reviews of the epidemiology of Huntington's disease (HD) suggest that its worldwide prevalence varies widely. This review was undertaken to confirm these observations, to assess the extent to which differences in case-ascertainment and/or diagnosis might be responsible, and to investigate whether the prevalence pattern has changed over the past 50 years. <b><i>Methods:</i></b> Eighty two relevant studies were identified from Medline and Embase, previous reviews, scrutiny of references from included and excluded studies and enquiry among those interested in the field. <b><i>Results:</i></b> The lowest rates were among the Asians and the highest among the Caucasians. The differences are not fully explained by varying approaches to case-ascertainment or diagnosis. There was evidence of an increasing prevalence of between 15 and 20% per decade in studies from Australia, North America and Western Europe. <b><i>Conclusions:</i></b> The prevalence of HD varies more than tenfold between different geographical regions. This variation can in part be attributed to differences in case-ascertainment and/or diagnostic criteria, but there is consistent evidence of a lower incidence in Asian populations. There is also evidence that in Australia, North America and in Western Europe (including the United Kingdom), prevalence has increased over the past 50 plus years.

<b><i>背景：</i></b> 针对亨廷顿病（Huntington's disease, HD）的流行病学研究综述显示，其全球患病率存在显著差异。本综述旨在验证上述观察结果，评估病例确定（case-ascertainment）和/或诊断方法的差异对患病率差异的影响程度，并探究过去50年间患病率模式是否发生了变化。 <b><i>方法：</i></b> 通过检索Medline、Embase数据库、既往综述、纳入与排除研究的参考文献，以及咨询该领域相关研究者，共筛选得到82项相关研究。 <b><i>结果：</i></b> 亚洲人群的亨廷顿病患病率最低，高加索人群的患病率最高。上述差异无法完全通过病例确定或诊断方法的不同来解释。来自澳大利亚、北美及西欧的研究显示，患病率每十年增长15%~20%。 <b><i>结论：</i></b> 亨廷顿病的患病率在不同地理区域间差异可达10倍以上。这种差异部分可归因于病例确定和/或诊断标准的不同，但现有研究一致显示亚洲人群的发病率更低。此外，澳大利亚、北美及西欧（包括英国）的研究均表明，过去50余年间该地区的亨廷顿病患病率呈上升趋势。