Cited 0 times in
Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 신하영 | - |
dc.date.accessioned | 2023-04-07T01:31:00Z | - |
dc.date.available | 2023-04-07T01:31:00Z | - |
dc.date.issued | 2022-12 | - |
dc.identifier.issn | 1355-4794 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/193963 | - |
dc.description.abstract | Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by 27-hydroxylase deficiency. We report the clinical characteristics of six Korean CTX patients. The median age of onset was 22.5 years, the median age at diagnosis was 42 years, and the diagnostic delay was 18.1 years. The most common clinical symptoms were tendon xanthoma and spastic paraplegia. Four of five patients exhibited latent central conduction dysfunction. All patients carried the same mutation in CYP27A1 (c.1214 G>A [p.R405Q]). CTX is a treatable neurodegenerative disorder; however, our results revealed that patients with CTX in Korea might receive the diagnosis after a prolonged delay. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Routledge | - |
dc.relation.isPartOf | NEUROCASE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Cholestanetriol 26-Monooxygenase / genetics | - |
dc.subject.MESH | Delayed Diagnosis | - |
dc.subject.MESH | Electrophysiological Phenomena | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Xanthomatosis, Cerebrotendinous* / diagnosis | - |
dc.subject.MESH | Xanthomatosis, Cerebrotendinous* / genetics | - |
dc.subject.MESH | Young Adult | - |
dc.title | Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학교실) | - |
dc.contributor.googleauthor | Sunyoung Kim | - |
dc.contributor.googleauthor | Jin-Sung Park | - |
dc.contributor.googleauthor | Jae-Hyeok Lee | - |
dc.contributor.googleauthor | Ha-Young Shin | - |
dc.contributor.googleauthor | Hui-Jun Yang | - |
dc.contributor.googleauthor | Jin-Hong Shin | - |
dc.identifier.doi | 10.1080/13554794.2023.2176777 | - |
dc.contributor.localId | A02170 | - |
dc.relation.journalcode | J02324 | - |
dc.identifier.eissn | 1465-3656 | - |
dc.identifier.pmid | 36803198 | - |
dc.identifier.url | https://www.tandfonline.com/doi/abs/10.1080/13554794.2023.2176777 | - |
dc.subject.keyword | Cerebrotendinous xanthomatosis | - |
dc.subject.keyword | neurodegenerative disorder | - |
dc.subject.keyword | spastic paraplegia | - |
dc.subject.keyword | xanthoma, cholestanol | - |
dc.contributor.alternativeName | Shin, Ha Young | - |
dc.contributor.affiliatedAuthor | 신하영 | - |
dc.citation.volume | 28 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 477 | - |
dc.citation.endPage | 482 | - |
dc.identifier.bibliographicCitation | NEUROCASE, Vol.28(6) : 477-482, 2022-12 | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.