Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.jocn.2003.05.007
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dc.titleCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: Clinical, radiological and skin biopsy features
dc.contributor.authorWilder-Smith, E.
dc.contributor.authorShen, Y.
dc.contributor.authorYu, G.X.
dc.contributor.authorWong, M.C.
dc.contributor.authorNg, Y.K.
dc.contributor.authorChew, N.K.
dc.contributor.authorTan, C.T.
dc.date.accessioned2012-06-08T09:31:27Z
dc.date.available2012-06-08T09:31:27Z
dc.date.issued2004
dc.identifier.citationWilder-Smith, E., Shen, Y., Yu, G.X., Wong, M.C., Ng, Y.K., Chew, N.K., Tan, C.T. (2004). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: Clinical, radiological and skin biopsy features. Journal of Clinical Neuroscience 11 (3) : 304-307. ScholarBank@NUS Repository. https://doi.org/10.1016/j.jocn.2003.05.007
dc.identifier.issn09675868
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/33933
dc.description.abstractWe describe the clinical, radiological, genetic and skin biopsy findings of the first Chinese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Of the 43-member family tree extending over three generations, eight had typical clinical features of CADASIL with recurrent ischemic stroke. In the three surviving affected family members, brain MRI showed extensive leukoaraiosis. Genotyping revealed heterozygous C to T mutation at nucleotide 406 in exon 3. Unusual clinical features were cerebellar infarction as a presenting complaint and a late age of onset with mild symptoms at age 69. A novel finding is the suggestion of a direct correlation between clinical disease severity and the quantity of ultrastructural pathognomonic granular osmophilic material (GOM) seen on skin biopsy. © 2003 Elsevier Ltd. All rights reserved.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1016/j.jocn.2003.05.007
dc.sourceScopus
dc.subjectAsia
dc.subjectCADASIL
dc.subjectCerebrovascular accident
dc.subjectDementia
dc.subjectNotch 3 gene
dc.subjectSingapore
dc.subjectSkin biopsy
dc.typeArticle
dc.contributor.departmentANATOMY
dc.contributor.departmentMEDICINE
dc.description.doi10.1016/j.jocn.2003.05.007
dc.description.sourcetitleJournal of Clinical Neuroscience
dc.description.volume11
dc.description.issue3
dc.description.page304-307
dc.description.codenJCNUE
dc.identifier.isiut000220316200016
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