Epidemiological and Genetic Studies of Huntington's Disease in the San-in Area of Japan

Nakashima, Kenji; Watanabe, Yasuhiro; Kusumi, Masayoshi; Nanba, Eiji; Maeoka, Yukinori; Nakagawa, Mayumi; Igo, Masayuki; H, Irie; Ishino, Hiroshi; Fujimoto, Akihiko; Goto, Jun; Takahashi, Kentaro

doi:10.1159/000109899

Cited by 35 publications

(20 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The fact that HD has an estimated worldwide prevalence of around 2.7 cases per 100,000 persons (95% CI 1.55-4.72), means that it meets the criteria for being classified as a rare disease (RD) [9] . While prevalence figures are higher in Caucasian populations (5.7 cases per 100,000), those in Asia and Africa are lower (approximately 0.5 cases per 100,000) [9][10][11] .…”

Section: Introductionmentioning

confidence: 92%

Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

Sánchez-Díaz

Arias-Merino²,

Villaverde-Hueso³

et al. 2016

Neuroepidemiology

View full text Add to dashboard Cite

Background: Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. Methods: HD data were extracted from the nationwide mortality registry for the period 1984-2013. Annual and 5-year gender- and age-specific rates adjusted for the standard European population were calculated. Geographic analysis was performed by districts from 1999 through 2013, and then estimated standardized mortality ratios (SMRs) and smoothed SMRs. Results: There were 1,556 HD-related deaths across the study period. An increasing trend in age-adjusted HD mortality was in evidence, specifically from 1994 through 1998. On a year-by-year basis, age-adjusted mortality rates increased from 0.076 per 100,000 population in 1984 to 0.157 in 2013. Geographical differences among districts were evident in specific areas and in the southwest of Spain with a significantly higher HD mortality risk. Conclusion: HD mortality rising trends in Spain might be attributable to improvements in diagnosis leading to a rise in prevalence. Geographical variability in HD mortality could be related to regional differences in disease prevalence, health-care disparities, or other factors which call for in-depth assessment in future studies.

show abstract

Section: Introductionmentioning

confidence: 92%

Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

Sánchez-Díaz

Arias-Merino²,

Villaverde-Hueso³

et al. 2016

Neuroepidemiology

View full text Add to dashboard Cite

show abstract

“…The minimum HD prevalence is estimated to be 0.1-0.5 per 1 00 000 in China 7,8 and Japan. [9][10][11] Previous studies have speculated that HD chromosomes in the Chinese population have the same origin as the European population. 7 HD patients in China and Japan appear to have similar clinical and pathological features, but the disease occurs at a much lower frequency than in Europe.…”

Section: Introductionmentioning

confidence: 99%

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

et al. 2011

View full text Add to dashboard Cite

Huntington disease (HD) results from CAG expansion in the huntingtin (HTT) gene. Although HD occurs worldwide, there are large geographic differences in its prevalence. The prevalence in populations derived from Europe is 10-100 times greater than in East Asia. The European general population chromosomes can be grouped into three major haplogroups (group of similar haplotypes): A, B and C. The majority of HD chromosomes in Europe are found on haplogroup A. However, in the East-Asian populations of China and Japan, we find the majority of HD chromosomes are associated with haplogroup C. The highest risk HD haplotypes (A1 and A2), are absent from the general and HD populations of China and Japan, and therefore provide an explanation for why HD prevalence is low in East Asia. Interestingly, both East-Asian and European populations share a similar low level of HD on haplogroup C. Our data are consistent with the hypothesis that different HTT haplotypes have different mutation rates, and geographic differences in HTT haplotypes explain the difference in HD prevalence. Further, the bias for expansion on haplogroup C in the East-Asian population cannot be explained by a higher average CAG size, as haplogroup C has a lower average CAG size in the general East-Asian population compared with other haplogroups. This finding suggests that CAG-tract size is not the only factor important for CAG instability. Instead, the expansion bias may be because of genetic cis-elements within the haplotype that influence CAG instability in HTT, possibly through different mutational mechanisms for the different haplogroups.

show abstract

“…Little research exists pertaining to the epidemiology of HD outside of Europe and North America. However, the prevalence is much lower in Asia with reported prevalence rates of 0.65 per 100,000 in Japan [12] and 0.37 per 100,000 in Hong Kong [13] . Epidemiological data of HD in Taiwan has never been reported.…”

mentioning

confidence: 99%

Nationwide Population-Based Epidemiologic Study of Huntington’s Disease in Taiwan

Chen

Lai²

2010

Neuroepidemiology

View full text Add to dashboard Cite

Background: The purpose of this study is to investigate the epidemiology and medical expenses of Huntington’s disease (HD) in Taiwan. Methods: Cases of HD were identified from the National Health Insurance Research Database with corresponding International Classification of Diseases, Ninth Revision (ICD-9) code 333.4 from January 2000 to December 2007. Age- and sex-specific incidences were estimated by dividing the incidence number by population data obtained from the Department of Statistics, Ministry of the Interior. Results: During the study period, 182 cases were identified, including 81 males and 101 females. The average annual incidence rate was 0.1 per 100,000. The age-specific incidence peaked in the 40–49 age group in men (0.23 per 100,000 per year) and in the 50–59 age group in women (0.24 per 100,000 per year). The incidence rate was only 0.01 per 100,000 per year in those under 20 years of age. The prevalence was 0.42 per 100,000 in 2007. Conclusions: This is the first population-based epidemiologic study on HD in Taiwan. The incidence rates and prevalence were much lower than those of Caucasians although the age distribution was similar.

show abstract

Epidemiological and Genetic Studies of Huntington's Disease in the San-in Area of Japan

Cited by 35 publications

References 12 publications

Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

Nationwide Population-Based Epidemiologic Study of Huntington’s Disease in Taiwan

Contact Info

Product

Resources

About