斯洛文尼亚亨廷顿舞蹈症的流行病学
Epidemiology of Huntington's disease in Slovenia.
作者信息
Peterlin B, Kobal J, Teran N, Flisar D, Lovrecić L
机构信息
Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Center Ljubljana, Ljubljana, Slovenia.
出版信息
Acta Neurol Scand. 2009 Jun;119(6):371-5. doi: 10.1111/j.1600-0404.2008.01110.x. Epub 2008 Oct 22.
OBJECTIVES
The objective of this study was to estimate the prevalence of Huntington's disease (HD) in Slovenia using direct mutation analysis.
MATERIALS AND METHODS
Symptomatic patients and presymptomatic individuals at risk for HD referred to the Institute of Medical Genetics between 1997 and 2007 were included in the study. The patients were ascertained through multiple sources. The prevalence was estimated on 31 December 2006.
RESULTS
A total of 116 and 68 individuals with CAG repeat number >36 were symptomatic and presymptomatic, respectively. The prevalence of HD in Slovenia was estimated at 5.16/10(5) (95% confidence interval 4.16-6.16).
CONCLUSIONS
This is the first report on the epidemiology and prevalence of HD in Slovenia. The prevalence of HD is comparable with previously reported data in other European countries. In Slovenia, a higher proportion of individuals at risk for HD decide on predictive mutational testing as compared with the estimated numbers for Europe, United States, Canada and Australia.
目的
本研究的目的是通过直接突变分析估计斯洛文尼亚亨廷顿舞蹈症（HD）的患病率。
材料与方法
1997年至2007年转诊至医学遗传学研究所的有症状患者和有HD风险的症状前个体纳入本研究。患者通过多种途径确定。患病率于2006年12月31日进行估计。
结果
共有116名和68名CAG重复数>36的个体分别为有症状和症状前个体。斯洛文尼亚HD的患病率估计为5.16/10⁵（95%置信区间4.16 - 6.16）。
结论
这是关于斯洛文尼亚HD流行病学和患病率的首份报告。HD的患病率与其他欧洲国家先前报告的数据相当。在斯洛文尼亚，与欧洲、美国、加拿大和澳大利亚的估计数字相比，有HD风险的个体中决定进行预测性突变检测的比例更高。
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