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Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration.

DC FieldValueLanguage
dc.contributor.author김도욱-
dc.contributor.author한승한-
dc.contributor.author한진우-
dc.date.accessioned2017-02-27T08:11:48Z-
dc.date.available2017-02-27T08:11:48Z-
dc.date.issued2016-
dc.identifier.issn1070-8022-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/147107-
dc.description.abstractPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegeneration with brain iron accumulation and characterized by extrapyramidal signs, vision loss, and intellectual decline. PKAN is caused by mutations in the PANK2 gene, which codes for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the coenzyme A biosynthetic pathway. Visual failure in this disorder is typically due to pigmentary retinopathy. Yet our patient, a 13-year-old girl with PKAN, developed bilateral optic atrophy and the appearance of the retina and electroretinography were normal. Optic atrophy is a rare finding in patients with PKAN. It is important for the clinician to consider PKAN in the differential diagnosis of patients presenting with signs of extrapyramidal dysfunction, cognitive decline, and vision loss because of optic atrophy.-
dc.description.statementOfResponsibilityrestriction-
dc.format.extent182~186-
dc.languageEnglish-
dc.publisherLippincott Williams & Wilkins-
dc.relation.isPartOfJournal of Neuro-Ophthalmology-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdolescent-
dc.subject.MESHElectroencephalography-
dc.subject.MESHElectromyography-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHMagnetic Resonance Imaging-
dc.subject.MESHOptic Atrophy/diagnosis-
dc.subject.MESHOptic Atrophy/etiology*-
dc.subject.MESHPantothenate Kinase-Associated Neurodegeneration/complications*-
dc.subject.MESHPantothenate Kinase-Associated Neurodegeneration/diagnosis-
dc.subject.MESHVisual Acuity*-
dc.titleOptic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration.-
dc.typeArticle-
dc.publisher.locationUnited States-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Ophthalmology-
dc.contributor.googleauthorJinu Han-
dc.contributor.googleauthorDo Wook Kim-
dc.contributor.googleauthorChul-Ho Lee-
dc.contributor.googleauthorSueng-Han Han-
dc.identifier.doi10.1097/WNO.0000000000000335-
dc.contributor.localIdA04518-
dc.contributor.localIdA04303-
dc.contributor.localIdA04329-
dc.relation.journalcodeJ01630-
dc.identifier.pmid26828840-
dc.identifier.urlhttp://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00041327-201606000-00016&LSLINK=80&D=ovft-
dc.contributor.alternativeNameKim, Do Wook-
dc.contributor.alternativeNameHan, Seung Han-
dc.contributor.alternativeNameHan, Jin U-
dc.contributor.affiliatedAuthorKim, Do Wook-
dc.contributor.affiliatedAuthorHan, Seung Han-
dc.contributor.affiliatedAuthorHan, Jin U-
dc.citation.volume36-
dc.citation.number2-
dc.citation.startPage182-
dc.citation.endPage186-
dc.identifier.bibliographicCitationJournal of Neuro-Ophthalmology, Vol.36(2) : 182-186, 2016-
dc.date.modified2017-02-24-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers

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