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Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy

DC FieldValueLanguage
dc.contributor.author최영철-
dc.contributor.author강훈철-
dc.contributor.author김승민-
dc.contributor.author박형준-
dc.contributor.author서범천-
dc.contributor.author신하영-
dc.contributor.author이필휴-
dc.contributor.author최병옥-
dc.date.accessioned2015-01-06T16:47:21Z-
dc.date.available2015-01-06T16:47:21Z-
dc.date.issued2014-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/98771-
dc.description.abstractPURPOSE: This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients. MATERIALS AND METHODS: We retrospectively selected 12 Korean AMN patients diagnosed by clinical analysis and increased plasma content of very long chain fatty acids. RESULTS: All 12 patients were men. Patient ages at symptom onset ranged from 18 to 55 years. Family history was positive in two patients. The phenotype distributions consisted of AMN without cerebral involvement in seven patients, AMN with cerebral involvement in two patients, and the spinocerebellar phenotype in three patients. Nerve conduction studies revealed abnormalities in four patients and visual evoked tests revealed abnormalities in three patients. Somatosensory evoked potential tests revealed central conduction defects in all of the tested patients. Spinal MRI showed diffuse cord atrophy or subtle signal changes in all 12 patients. Brain MRI findings were abnormal in six of the nine tested patients. These brain abnormalities reflected the clinical phenotypes. Mutational analysis identified nine different ABCD1 mutations in 10 of 11 tested patients. Among them, nine have been previously reported and shown to be associated with various phenotypes; one was a novel mutation. CONCLUSION: In conclusion, the present study is the first to report on the clinical and mutational spectrum of Korean AMN patients, and confirms various clinical presentations and the usefulness of brain MRI scan.-
dc.description.statementOfResponsibilityopen-
dc.format.extent676~682-
dc.relation.isPartOfYONSEI MEDICAL JOURNAL-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHATP Binding Cassette Transporter, Sub-Family D, Member 1-
dc.subject.MESHATP-Binding Cassette Transporters/genetics-
dc.subject.MESHAdolescent-
dc.subject.MESHAdrenoleukodystrophy/diagnosis*-
dc.subject.MESHAdrenoleukodystrophy/genetics*-
dc.subject.MESHAdult-
dc.subject.MESHBrain/pathology-
dc.subject.MESHHumans-
dc.subject.MESHMagnetic Resonance Imaging-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHYoung Adult-
dc.titleClinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학)-
dc.contributor.googleauthorHyung Jun Park-
dc.contributor.googleauthorHa Young Shin-
dc.contributor.googleauthorHoon-Chul Kang-
dc.contributor.googleauthorByung-Ok Choi-
dc.contributor.googleauthorBum Chun Suh-
dc.contributor.googleauthorHo Jin Kim-
dc.contributor.googleauthorYoung-Chul Choi-
dc.contributor.googleauthorPhil Hyu Lee-
dc.contributor.googleauthorSeung Min Kim-
dc.identifier.doi10.3349/ymj.2014.55.3.676-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA04116-
dc.contributor.localIdA00102-
dc.contributor.localIdA00653-
dc.contributor.localIdA01758-
dc.contributor.localIdA01883-
dc.contributor.localIdA02170-
dc.contributor.localIdA03270-
dc.contributor.localIdA04058-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid24719134-
dc.subject.keywordABCD1-
dc.subject.keywordAdrenoleukodystrophy-
dc.subject.keywordadrenomyeloneuropathy-
dc.subject.keywordataxia-
dc.subject.keywordvery long chain fatty acid-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.alternativeNameKang, Hoon Chul-
dc.contributor.alternativeNameKim, Seung Min-
dc.contributor.alternativeNamePark, Hyung Jun-
dc.contributor.alternativeNameSuh, Bum Chun-
dc.contributor.alternativeNameShin, Ha Young-
dc.contributor.alternativeNameLee, Phil Hyu-
dc.contributor.alternativeNameChoi, Byung Ok-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.contributor.affiliatedAuthorKang, Hoon Chul-
dc.contributor.affiliatedAuthorKim, Seung Min-
dc.contributor.affiliatedAuthorPark, Hyung Jun-
dc.contributor.affiliatedAuthorSuh, Bum Chun-
dc.contributor.affiliatedAuthorShin, Ha Young-
dc.contributor.affiliatedAuthorLee, Phil Hyu-
dc.contributor.affiliatedAuthorChoi, Byung Ok-
dc.citation.volume55-
dc.citation.number3-
dc.citation.startPage676-
dc.citation.endPage682-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.55(3) : 676-682, 2014-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers

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