Preliminary analysis of Huntington's Disease in South Korea.

BACKGROUND

There have been epidemiological studies of Huntington's disease (HD) in various populations and nations. Only a few studies describing clinical characteristics have been reported in Asia.

OBJECTIVE

To conduct preliminary analyses of demographic, clinical and genetic characteristics of HD in South Korea.

METHODS

From 1994 to 2011, thirty six subjects were diagnosed as HD in Seoul National University Hospital. Demographic, clinical and genetic data were carefully analyzed in all subjects.

RESULTS

Mean age of onset was 46.5 ± 12.7 years and mean expanded CAG repeat size was 45.4 ± 4.7. Twenty-eight subjects (80%) had a family history of HD. Chorea was the most frequent symptom at first visit (89%). Proportion of cognitive decline (36%) and psychiatric symptom (28%) at first visit were lower than proportion of previous reports. A negative correlation (Pearson correlation coefficient -0.757, p = 0.001) was found between expanded CAG repeat size and age of onset. Seven subjects without family history of HD had higher mean age of onset (54.0 ± 8.1) and smaller expanded CAG repeat size (42.4 ± 2.7). Cognitive problems at first visit of subjects without family history were more prominent than those with family history (86% vs. 25%).

CONCLUSIONS

This study is the first demographic, clinical and genetic analyses in South Korea. These results will be helpful to stimulate more large-scale research in South Korea and other Asian nations.