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

DC FieldValueLanguage
dc.contributor.author류철형-
dc.contributor.author이명식-
dc.contributor.author이필휴-
dc.date.accessioned2016-02-04T11:11:07Z-
dc.date.available2016-02-04T11:11:07Z-
dc.date.issued2015-
dc.identifier.issn2093-4939-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/139855-
dc.description.abstractOBJECTIVE: Huntington'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. METHODS: We 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. RESULTS: The 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. CONCLUSIONS: To 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.-
dc.description.statementOfResponsibilityopen-
dc.format.extent14~20-
dc.relation.isPartOfJOURNAL OF MOVEMENT DISORDERS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleCurrent Status of Huntington's Disease in Korea: A Nationwide Survey and National Registry Analysis-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학)-
dc.contributor.googleauthorHyun Sook Kim-
dc.contributor.googleauthorChul Hyoung Lyoo-
dc.contributor.googleauthorPhil Hyu Lee-
dc.contributor.googleauthorSang Jin Kim-
dc.contributor.googleauthorMee Young Park-
dc.contributor.googleauthorHyeo Il Ma-
dc.contributor.googleauthorJae Hyeok Lee-
dc.contributor.googleauthorSook Kun Song-
dc.contributor.googleauthorJong Sam Baik-
dc.contributor.googleauthorJin Ho Kim-
dc.contributor.googleauthorMyung Sik Lee-
dc.identifier.doi10.14802/jmd.14038-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01333-
dc.contributor.localIdA02753-
dc.contributor.localIdA03270-
dc.relation.journalcodeJ01610-
dc.identifier.eissn2005-940X-
dc.identifier.pmid25614781-
dc.subject.keywordDatabase-
dc.subject.keywordHuntington’s disease-
dc.subject.keywordIncidence-
dc.subject.keywordPhenotype-
dc.subject.keywordPrevalenc-
dc.contributor.alternativeNameLyoo, Chul Hyoung-
dc.contributor.alternativeNameLee, Myung Sik-
dc.contributor.alternativeNameLee, Phil Hyu-
dc.contributor.affiliatedAuthorLyoo, Chul Hyoung-
dc.contributor.affiliatedAuthorLee, Myung Sik-
dc.contributor.affiliatedAuthorLee, Phil Hyu-
dc.rights.accessRightsfree-
dc.citation.volume8-
dc.citation.number1-
dc.citation.startPage14-
dc.citation.endPage20-
dc.identifier.bibliographicCitationJOURNAL OF MOVEMENT DISORDERS, Vol.8(1) : 14-20, 2015-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

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