Epidemiology of Huntington's disease in Slovenia

被引：15

作者：

Peterlin, B. ^{[1
]}

Kobal, J. ^{[2
]}

Teran, N. ^{[1
]}

Flisar, D. ^{[3
]}

Lovrecic, L. ^{[1
]}

机构：

[1] Univ Med Ctr Ljubljana, Inst Med Genet, Dept Obstet & Gynecol, SI-1000 Ljubljana, Slovenia

[2] Univ Med Ctr Ljubljana, Dept Neurol, SI-1000 Ljubljana, Slovenia

[3] Univ Med Ctr Maribor, Dept Neurol, Maribor, Slovenia

来源：

ACTA NEUROLOGICA SCANDINAVICA | 2009年 / 119卷 / 06期

关键词：

Huntington's disease; neurodegenerative disorders; neuroepidemiology; neurogenetics; movement disorders; DNA ANALYSIS; ONSET; GENE; EXPERIENCE; DURATION; REPEAT; AGE;

D O I：

10.1111/j.1600-0404.2008.01110.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The objective of this study was to estimate the prevalence of Huntington's disease (HD) in Slovenia using direct mutation analysis. 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. 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). 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.

引用

页码：371 / 375

页数：5

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