The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis

Juvenile Huntington’s disease (JHD) is usually defined as Huntington's disease with an onset ≤ 20 years. The proportion of JHD cases reported in studies of Huntington’s disease (HD) varies. A review of the literature found 62 studies that reported the proportion of JHD cases amongst all HD cases. The proportion of JHD cases in these studies ranged from 1% to 15%, and in a meta-analysis the pooled proportion of JHD cases was 4.92% (95% confidence interval of 4.07% to 5.84%). Limiting the analysis to the 25 studies which used multiple methods of ascertainment resulted in a similar pooled proportion of 5.32%, (95% confidence interval 4.18% to 6.60%). A small difference was observed when the meta-analysis was restricted to studies from countries defined by the World Bank as high income, that used multiple methods of ascertainment, and that were conducted since 1980 (4.81%, 95% confidence interval 3.31% to 6.58%, n=11). This contrasts with the pooled result from three post 1980 studies using multiple methods of ascertainment from South Africa and Venezuela, defined by the World Bank as upper middle income, where the estimated mean proportion was 9.95%, (95% confidence interval 6.37% to 14.22%). These results, which are expected to be more robust than those from a single study alone, may be helpful in estimating the proportion of JHD cases in a given population. Key Words: Juvenile Huntington’s disease, prevalence, epidemiology