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Cited 12 times in

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.

DC Field Value Language
dc.contributor.author강훈철-
dc.contributor.author구교연-
dc.contributor.author남효석-
dc.contributor.author이영목-
dc.date.accessioned2015-12-28T11:01:33Z-
dc.date.available2015-12-28T11:01:33Z-
dc.date.issued2014-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/138532-
dc.description.abstractX-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms.-
dc.description.statementOfResponsibilityopen-
dc.format.extent1157~1160-
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.MESHAdrenoleukodystrophy/blood-
dc.subject.MESHAdrenoleukodystrophy/genetics*-
dc.subject.MESHAdult-
dc.subject.MESHCerebellar Diseases/blood-
dc.subject.MESHCerebellar Diseases/genetics*-
dc.subject.MESHFatty Acids/blood-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMutation-
dc.titleIsolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorJoon Won Kang-
dc.contributor.googleauthorSang Mi Lee-
dc.contributor.googleauthorKyo Yeon Koo-
dc.contributor.googleauthorYoung Mock Lee-
dc.contributor.googleauthorHyo Suk Nam-
dc.contributor.googleauthorZhejiu Quan-
dc.contributor.googleauthorHoon Chul Kang-
dc.identifier.doi10.3349/ymj.2014.55.4.1157-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00102-
dc.contributor.localIdA00187-
dc.contributor.localIdA01273-
dc.contributor.localIdA02955-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid24954351-
dc.subject.keywordABCD1-
dc.subject.keywordX-linked adrenoleukodystrophy-
dc.subject.keywordcerebellar-
dc.subject.keywordvery long chain fatty acid-
dc.contributor.alternativeNameKang, Hoon Chul-
dc.contributor.alternativeNameGoo, Kyo Yeon-
dc.contributor.alternativeNameNam, Hyo Suk-
dc.contributor.alternativeNameLee, Young Mock-
dc.contributor.affiliatedAuthorKang, Hoon Chul-
dc.contributor.affiliatedAuthorGoo, Kyo Yeon-
dc.contributor.affiliatedAuthorNam, Hyo Suk-
dc.contributor.affiliatedAuthorLee, Young Mock-
dc.citation.volume55-
dc.citation.number4-
dc.citation.startPage1157-
dc.citation.endPage1160-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.55(4) : 1157-1160, 2014-
dc.identifier.rimsid38365-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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