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Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review

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dc.contributor.authorPark, DG-
dc.contributor.authorMin, JH-
dc.contributor.authorSohn, SH-
dc.contributor.authorSohn, YB-
dc.contributor.authorYoon, JH-
dc.date.accessioned2022-10-24T05:53:29Z-
dc.date.available2022-10-24T05:53:29Z-
dc.date.issued2020-
dc.identifier.issn1473-4222-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/22317-
dc.description.abstractCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom. Here, we review reports of CADASIL presenting as ataxia and compare these to the first pathologically confirmed case of CADASIL presenting with progressive ataxia. A 50-year-old woman presented with progressive truncal ataxia. Brain magnetic resonance imaging (MRI) revealed white matter hyperintensities in the bilateral anterior temporal lobes, external capsules, and periventricular areas, but not the cerebellum. Electron microscopy of skin biopsy material revealed multiple granular osmiophilic materials. Genetic testing confirmed a c.4552C > A mutation in exon 25 of the NOTCH3 gene. CADASIL is a rare cause of progressive ataxia, and only four cases of CADASIL presenting with ataxia have been reported in the literature. We also discuss the possible pathophysiology of cerebellar ataxia associated with CADASIL.-
dc.language.isoen-
dc.subject.MESHAtaxia-
dc.subject.MESHCADASIL-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHMiddle Aged-
dc.titleAtaxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review-
dc.typeArticle-
dc.identifier.pmid32734377-
dc.subject.keywordAtaxia-
dc.subject.keywordCADASIL-
dc.subject.keywordExon 25-
dc.subject.keywordGranular osmiophilic material-
dc.subject.keywordLeu1518Met-
dc.subject.keywordNOTCH3-
dc.contributor.affiliatedAuthorPark, DG-
dc.contributor.affiliatedAuthorSohn, SH-
dc.contributor.affiliatedAuthorSohn, YB-
dc.contributor.affiliatedAuthorYoon, JH-
dc.type.localJournal Papers-
dc.identifier.doi10.1007/s12311-020-01173-z-
dc.citation.titleCerebellum (London, England)-
dc.citation.volume19-
dc.citation.number6-
dc.citation.date2020-
dc.citation.startPage907-
dc.citation.endPage910-
dc.identifier.bibliographicCitationCerebellum (London, England), 19(6). : 907-910, 2020-
dc.embargo.liftdate9999-12-31-
dc.embargo.terms9999-12-31-
dc.identifier.eissn1473-4230-
dc.relation.journalidJ014734222-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Neurology
Journal Papers > School of Medicine / Graduate School of Medicine > Microbiology
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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