Current Status of Huntington’s Disease in Korea: A Nationwide Survey and National Registry Analysis

Abstract

ObjectiveHuntington’s disease (HD) is a rare neurological disorder, and its current status in Korea is not well investigated. This study aims to determine the prevalence and incidence of HD and to investigate the clinical features of HD patients in Korea.MethodsWe estimated the crude prevalence and annual incidence of HD based on the databases of the Rare Diseases Registry (RDR) and the National Health Insurance (NHI). The clinical data of genetically confirmed HD patients was collected from 10 referral hospitals and analyzed.ResultsThe mean calculated annual incidence was 0.06 cases per 100,000 persons, and the mean calculated prevalence was 0.38 based on the NHI database. The estimated crude prevalence based on the RDR was 0.41. Of the sixty-eight HD patients recruited, the mean age of onset was 44.16 ± 14.08 years and chorea was most frequently reported as the initial symptom and chief complaint. The mean CAG repeat number of the expanded allele was 44.7 ± 4.8 and correlated inversely with the age of onset (p < 0.001). About two-thirds of the patients have a positive family history, and HD patients without positive family history showed a delay in onset of initial symptoms, a prolonged interval between initial symptom onset and genetic diagnosis and a delay in the age of genetic diagnosis.ConclusionsTo the best of our knowledge, this is the first study to estimate the prevalence and incidence of HD in Korea and the largest HD series in the Asian population. Our analyses might be useful for further studies and large-scale investigations in HD patients.

Epidemiological Study of Huntington's Disease in the Province of Ferrara, Italy

“…Prevalence rates in this area were lower than those of Australia, United Kingdom, Ireland and Americas [28,29,30,31], but higher than those reported in Iceland [32], Finland [33], Eastern Europe [31,34], Asia [9,10,35,36] and Africa [31,37]. …”

“…The introduction of genetic tests has represented a turning point in diagnostic work-up, making it possible to perform preclinical and antenatal diagnoses. HD appears to have an uneven distribution in the world [8,9,10,11,12]. However, an increase in prevalence of HD has been observed in Italian [8] and European population ascribable to the new diagnostic era [13,14,15] pointing out how the lack of a specific test had led to an underestimation of the actual disease burden.…”

Commonalities in Biological Pathways, Genetics, and Cellular Mechanism between Alzheimer Disease and Other Neurodegenerative Diseases: An In Silico-Updated Overview

“…Huntington’s disease is a well-known progressive and devastating ND characterized by motor dysfunction and early death, and it affects 4 to 8 persons per 100,000 with an average disease onset between the ages 35 and 45 [39, 40]. The pathophysiology of HD is linked to an 'expanded trinucleotide repeat' (CAG) in the IT-15 gene on chromosome 4 [41].…”

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

“…Prevalence studies incorporating both genetic and clinical diagnostic criteria, which have become more readily available in the last two decades, show that up to one in 7,300 people are affected with HD in Western populations, with the majority of prevalence estimates ranging between 9.71 and 13.7 per 100,000 (Baig et al, ; Fisher & Hayden, ; Rawlins et al, ). Strikingly, HD manifests at less than one‐twentieth this rate in East Asian populations from Japan, Korea, Taiwan, and Hong Kong (0.1–0.7 per 100,000) (Adachi & Nakashima, ; Chang et al, ; Chen & Lai, ; Kay et al, ; Kim et al, ). In South Africa, HD in black people occurs at approximately one‐tenth the rate in the white subpopulation, and approximately one‐third the rate in the mixed ancestry subpopulation (Baine, Krause, & Greenberg, ).…”